MPZ
gene geneOn this page
Also known as HMSNIBCMT2ICMT2JP0
Summary
MPZ (myelin protein zero, HGNC:7225) is a protein-coding gene on chromosome 1q23.3, encoding Myelin protein P0 (P25189). Is an adhesion molecule necessary for normal myelination in the peripheral nervous system.
This gene is specifically expressed in Schwann cells of the peripheral nervous system and encodes a type I transmembrane glycoprotein that is a major structural protein of the peripheral myelin sheath. The encoded protein contains a large hydrophobic extracellular domain and a smaller basic intracellular domain, which are essential for the formation and stabilization of the multilamellar structure of the compact myelin. Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies, such as Dejerine-Sottas syndrome (DSS) and congenital hypomyelinating neuropathy (CHN). A recent study showed that two isoforms are produced from the same mRNA by use of alternative in-frame translation termination codons via a stop codon readthrough mechanism.
Source: NCBI Gene 4359 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Charcot-Marie-Tooth disease (Definitive, ClinGen) — +7 more curated relationships
- GWAS associations: 2
- Clinical variants (ClinVar): 720 total — 106 pathogenic, 57 likely-pathogenic
- Phenotypes (HPO): 93
- MANE Select transcript:
NM_000530
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7225 |
| Approved symbol | MPZ |
| Name | myelin protein zero |
| Location | 1q23.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HMSNIB, CMT2I, CMT2J, P0 |
| Ensembl gene | ENSG00000158887 |
| Ensembl biotype | protein_coding |
| OMIM | 159440 |
| Entrez | 4359 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 4 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000463290, ENST00000476410, ENST00000488271, ENST00000526189, ENST00000533357, ENST00000672287, ENST00000672602
RefSeq mRNA: 2 — MANE Select: NM_000530
NM_000530, NM_001315491
CCDS: CCDS1229, CCDS91087
Canonical transcript exons
ENST00000533357 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001041809 | 161307258 | 161307424 |
| ENSE00001313871 | 161309839 | 161309968 |
| ENSE00001414908 | 161304735 | 161305977 |
| ENSE00003615032 | 161306329 | 161306464 |
| ENSE00003629276 | 161306108 | 161306168 |
| ENSE00003643873 | 161306708 | 161306921 |
Expression profiles
Bgee: expression breadth ubiquitous, 178 present calls, max score 99.74.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8498 / max 2128.2039, expressed in 1219 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 15636 | 5.5921 | 234 |
| 15631 | 1.5161 | 678 |
| 15635 | 1.5068 | 679 |
| 15632 | 0.1909 | 75 |
| 15633 | 0.0439 | 11 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibial nerve | UBERON:0001323 | 99.74 | gold quality |
| sural nerve | UBERON:0015488 | 99.51 | gold quality |
| olfactory bulb | UBERON:0002264 | 99.30 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 98.33 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 97.66 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 85.36 | gold quality |
| lower esophagus | UBERON:0013473 | 85.32 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 85.20 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 84.35 | gold quality |
| left coronary artery | UBERON:0001626 | 83.28 | gold quality |
| right atrium auricular region | UBERON:0006631 | 82.19 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.06 | silver quality |
| coronary artery | UBERON:0001621 | 81.96 | gold quality |
| cardiac atrium | UBERON:0002081 | 80.98 | gold quality |
| seminal vesicle | UBERON:0000998 | 80.00 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 79.48 | gold quality |
| sigmoid colon | UBERON:0001159 | 79.43 | gold quality |
| colonic epithelium | UBERON:0000397 | 79.29 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 78.84 | gold quality |
| minor salivary gland | UBERON:0001830 | 78.41 | gold quality |
| monocyte | CL:0000576 | 78.13 | gold quality |
| skin of abdomen | UBERON:0001416 | 78.06 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 77.65 | gold quality |
| esophagus | UBERON:0001043 | 77.64 | gold quality |
| mononuclear cell | CL:0000842 | 77.63 | gold quality |
| leukocyte | CL:0000738 | 77.30 | gold quality |
| transverse colon | UBERON:0001157 | 76.80 | gold quality |
| stromal cell of endometrium | CL:0002255 | 76.76 | gold quality |
| left uterine tube | UBERON:0001303 | 76.73 | gold quality |
| heart | UBERON:0000948 | 76.58 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 6.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8221 | yes | 1319.56 |
| E-HCAD-56 | yes | 487.87 |
| E-MTAB-10485 | yes | 405.93 |
| E-HCAD-11 | yes | 34.93 |
| E-MTAB-8410 | yes | 17.53 |
| E-CURD-46 | yes | 13.61 |
| E-ANND-3 | no | 1.73 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF, EGR2, ID1, JUN, MYC, PAX6, POU3F1, SOX10, ZNF699
miRNA regulators (miRDB)
132 targeting MPZ, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
Literature-anchored findings (GeneRIF, showing 40)
- SSCP analysis for this gene in Croatian patients (PMID:12211648)
- We suggest that axonal and demyelinating forms of CMT are not two distinct classes, but rather parts of a spectrum of genotypically related conditions, particularly with some MPZ mutations (PMID:12911457)
- DNA sequencing analysis shows the Asn131Lys mutation in the myelin protein zero gene in three members of an affected family. (PMID:12940837)
- A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin. (PMID:15036333)
- Four missense mutations and one 4-base pair (bp) deletion, respectively, were identified in five patients, of which one mutation, c.173 T>A, has never been previously reported (PMID:15050444)
- MPZ gene screening should be performed for wide phenotype spectrum of Charcot-Marie-Tooth disease. (PMID:15094849)
- Chronic cough was associated with a Thr124 Met mutation. MPZ must be critical for maintenance of axonal function in addition to its role in myelin. All MPZ mutations associated with tonic pupils affect the same region of the extracellular domain. (PMID:15159512)
- A novel Thr124Lys mutation in the MPZ gene is associated with congenital neuropathy with hypomyelination. (PMID:15184631)
- Within 94 MPZ gene mutations reported up to now, only a few were identified in the exon 4 of the MPZ gene. In this study we have identified a novel Leu190fs mutation in the MPZ gene. (PMID:15261887)
- A novel mutation, 290 A–>T (Glu97Val), in the myelin protein zero gene (P0) is reported in a family with late-onset Charcot-Marie-Tooth disease type 2. (PMID:15326256)
- PMP22 and P0 are involved in both trans-homophilic and trans-heterophilic interactions. Disease-related point mutations of P0 resulted in a decreased adhesion capability correlating with the severity of the respective disease phenotype. (PMID:15555916)
- 4 patients had a Val102/fs null mutation (306delA at codon 102), age-dependent variability of clinical & electrophysiologic phenotype, segmental conduction abnormalities mainly in ulnar nerves at the elbow, & excessive myelin foldings & thickenings. (PMID:15596778)
- There was concordance between median MNCV and specific MPZ mutations. (PMID:15729519)
- P0, the major myelin protein, is also expressed during nephrogenesis and in mature kidney, mostly in podocytes. (PMID:16162811)
- family in which five members of three consecutive generations had a heterozygous mutation in nucleotide position 143 with a T-C transition in exon 2 of the MPZ gene. The resulting substitution of Leu48 with proline has not been previously described. (PMID:16198109)
- Charcot-Marie-Tooth disease due to the Thr124Met mutation in the myelin protein zero gene associated with multiple sclerosis. (PMID:16279991)
- Polymorphic short tandem repeats for PCR-based diagnosis of the Charcot-Marie-Tooth 1A duplication in Ukraine was performed. (PMID:16398147)
- Peripheral neuropathies caused by mutations in the myelin protein zero. (PMID:16414078)
- Two patients of Charcot-Marie-Tooth disease type 1B from subsequent generations were homozygous for an Asp195Tyr mutation in the intracellular domain of P0 (P0ic). (PMID:16488608)
- MPZ gene showed a novel point mutation in the extracellular domain in two families with axonal CMT. (PMID:16543539)
- Data confirm that a mutation in myelin protein zero can cause axonal neuropathy, in the absence of segmental demyelination, thus uncoupling the two pathological processes. (PMID:16856127)
- Intronic mutations cause CMT1B by disrupting splicing and certain MPZ mutations may cause neuropathy by interacting with the wild type MPZ in the extracellular space of compact myelin. (PMID:17030746)
- the cytoplasmic apposition (major dense line) in compact myelin may be stabilized via the hydrogen-bonding of beta-strands formed as a result of local P0-P0 aggregation. (PMID:17142269)
- a new myelin protein zero gene mutation (c.89T>C,Ile30Thr) was detected in a family with the Dejerine-Sottas disease phenotype (PMID:17143884)
- A patient with Charcot Marie Tooth Disease, Type Ib had a MPZ mutation with A-C transversion (nucleotide: 116, codon: 10, histidine-to-proline). (PMID:17602703)
- a novel Pro105Thr mutation in the MPZ gene (PMID:17663472)
- Congenital hypomyelinating neuropathy is a rare condition characterized by prenatal, neonatal or early infantile onset of hypotonia, paresis and areflexia.Here we describe a family with a heterozygous mutation in MPZ, confirmed in two generations. (PMID:17825553)
- In all patients, molecular analysis demonstrated a novel heterozygous missense mutation (208C>T) in MPZ exon 2, causing the Pro70Ser substitution in the extracellular domain. The diagnosis of CMT2 associated with MPZ (PMID:17940173)
- The novel mutation causes a late-onset demyelinating polyneuropathy, putatively resulting from aberrant intracellular trafficking of the mutant P(0) protein, which compromises the adhesiveness of the cells. (PMID:18209201)
- Results suggest that at least some late-onset MPZ mutations cause a partial loss of function in the transfected cells, whereas multiple abnormal gain of function pathways can result in early-onset neuropathy. (PMID:18337304)
- Our study provides further evidence that phenotypic features of MPZ mutations can vary within and among different families with CMT Ib (PMID:18422810)
- A heterozygous nonsense mutation (Tyr145Stop) corresponding to a T-to-A transition at nucleotide position 435 in exon 3 of the MPZ gene was identified in Charcot-Marie-Tooth disease type 1B patients. (PMID:18663734)
- Data show that the CMT1Adup, GJB1, MPZ and PMP22 mutation frequencies were in the range of those described in other CMT patient collectives with different ethnical backgrounds. (PMID:19259128)
- Findings suggest that the clinical features associated with MPZ mutations depend partly on the nature of amino acid change. (PMID:19293842)
- mutations in MPZ may have a role in Charcot-Marie-Tooth disease type 1B [case report] (PMID:19475438)
- The index patient of this family with unusual Charcot-Marie-Tooth phenotype is found to have a missense mutation within the intracellular domain of myelin protein zero. (PMID:19882637)
- Here we describe an unusual presentation of the Val102fs mutation characterized by symptoms of spinal root hypertrophy with no overt peroneal muscular atrophy. This report adds new data concerning the clinical presentations of MPZ mutations. (PMID:19906531)
- A genetic test disclosed a heterozygous mutation of myelin protein zero (MPZ); p.Thr124Met. (PMID:19928689)
- novel mutation in vocal cord paralysis (PMID:19950375)
- The results of this study concluded that ARG98HIS MPZ mutation may cause hereditary and relatively mild and asymmetric demyelinating sensorimotor polyneuropathy (PMID:20215982)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mpz | ENSDARG00000038609 |
| mus_musculus | Mpz | ENSMUSG00000056569 |
| rattus_norvegicus | Mpz | ENSRNOG00000003171 |
Paralogs (6): MPZL2 (ENSG00000149573), SCN2B (ENSG00000149575), MPZL3 (ENSG00000160588), JAML (ENSG00000160593), SCN4B (ENSG00000177098), MPZL1 (ENSG00000197965)
Protein
Protein identifiers
Myelin protein P0 — P25189 (reviewed: P25189)
Alternative names: Myelin peripheral protein, Myelin protein zero
All UniProt accessions (4): P25189, A0A0J9YWT2, A0A5F9ZI26, E9PL80
UniProt curated annotations — full annotation on UniProt →
Function. Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction.
Subunit / interactions. Homodimer and homotetramer.
Subcellular location. Cell membrane Myelin membrane.
Tissue specificity. Found only in peripheral nervous system Schwann cells.
Post-translational modifications. N-glycosylated; contains sulfate-substituted glycan.
Disease relevance. Charcot-Marie-Tooth disease, demyelinating, type 1B (CMT1B) [MIM:118200] A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. The disease is caused by variants affecting the gene represented in this entry. Charcot-Marie-Tooth disease, axonal, type 2I (CMT2I) [MIM:607677] A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. The disease is caused by variants affecting the gene represented in this entry. Charcot-Marie-Tooth disease, axonal, type 2J (CMT2J) [MIM:607736] A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil. The disease is caused by variants affecting the gene represented in this entry. Adie pupil (ADIEP) [MIM:103100] A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J. The disease is caused by variants affecting the gene represented in this entry. Charcot-Marie-Tooth disease, dominant intermediate D (CMTDID) [MIM:607791] A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. The disease may be caused by variants affecting the gene represented in this entry. Dejerine-Sottas syndrome (DSS) [MIM:145900] A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. The disease is caused by variants affecting the gene represented in this entry. Roussy-Levy syndrome (ROULS) [MIM:180800] Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia. The disease is caused by variants affecting the gene represented in this entry. Neuropathy, congenital hypomyelinating, 2 (CHN2) [MIM:618184] A form of congenital hypomyelinating neuropathy, a neurologic disorder characterized by early-onset hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (NCV) resulting from improper myelination of axons. In its extreme form, it may present with severe joint contractures or arthrogryposis multiplex congenita and respiratory insufficiency. In less severe cases patients may achieve walking. Patients lack both active myelin breakdown and well-organized onion bulbs on sural nerve biopsies, have absence of inflammation, and show hypomyelination of most or all fibers. CHN2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. Based on a naturally occurring readthrough transcript. Highly antigenic.
Similarity. Belongs to the myelin P0 protein family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P25189-1 | 1 | yes |
| P25189-2 | L-MPZ |
RefSeq proteins (2): NP_000521, NP_001302420 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000920 | Myelin_P0-rel | Family |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013106 | Ig_V-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR019566 | MYP0_C | Domain |
| IPR019738 | Myelin_P0_CS | Conserved_site |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR047014 | Myelin_P0_Ig-like | Domain |
Pfam: PF07686, PF10570
UniProt features (121 total): sequence variant 91, strand 12, modified residue 5, helix 2, topological domain 2, signal peptide 1, chain 1, turn 1, glycosylation site 1, disulfide bond 1, splice variant 1, transmembrane region 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8IIA | X-RAY DIFFRACTION | 2.09 |
| 3OAI | X-RAY DIFFRACTION | 2.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P25189-F1 | 82.38 | 0.57 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (5): 233, 243, 210, 226, 228
Disulfide bonds (1): 50–127
Glycosylation sites (1): 122
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-9619665 | EGR2 and SOX10-mediated initiation of Schwann cell myelination |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-9675108 | Nervous system development |
MSigDB gene sets: 283 (showing top):
RNGTGGGC_UNKNOWN, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_CELL_ADHESION, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_ENSHEATHMENT_OF_NEURONS, GOBP_CELL_AGGREGATION, MODULE_157, GOBP_SYNAPTIC_SIGNALING, LE_EGR2_TARGETS_DN, CTCAAGA_MIR526B, CAGCCTC_MIR4855P, KEGG_CELL_ADHESION_MOLECULES_CAMS, MODULE_104, GOCC_MYELIN_SHEATH
GO Biological Process (4): chemical synaptic transmission (GO:0007268), myelination (GO:0042552), obsolete cell-cell adhesion via plasma-membrane adhesion molecules (GO:0098742), cell aggregation (GO:0098743)
GO Molecular Function (1): structural molecule activity (GO:0005198)
GO Cellular Component (4): plasma membrane (GO:0005886), myelin sheath (GO:0043209), synapse (GO:0045202), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Nervous system development | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| anterograde trans-synaptic signaling | 1 |
| axon ensheathment | 1 |
| cellular process | 1 |
| molecular_function | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FCGR2A | MPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| MPZ | IL6R | psi-mi:“MI:0915”(physical association) | 0.400 |
| IL6R | MPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| MPZ | ISLR2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KIR2DL5A | MPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| LILRA5 | MPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| LILRA6 | MPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| LILRB3 | MPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| LILRB5 | MPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| SIGLEC6 | MPZ | psi-mi:“MI:0915”(physical association) | 0.400 |
| CCP110 | MPZ | psi-mi:“MI:0915”(physical association) | 0.370 |
| PSMB3 | MPZ | psi-mi:“MI:0915”(physical association) | 0.370 |
| MRPS23 | MYH7B | psi-mi:“MI:0914”(association) | 0.350 |
| MPZ | PINX1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (10): MPZ (Proximity Label-MS), MPZ (Synthetic Lethality), MPZ (Affinity Capture-Western), MPZ (Affinity Capture-MS), PMP22 (Affinity Capture-Western), MPZ (Affinity Capture-MS), MPZ (Proximity Label-MS), MPZ (Cross-Linking-MS (XL-MS)), MPZ (Affinity Capture-MS), PSMB3 (Two-hybrid)
ESM2 similar proteins: A0JM41, A2VD98, A6QQC6, A8MVW5, B0CLX4, B6ZK76, B6ZK77, O60487, O70255, O88324, O88775, O95976, P01832, P03228, P06907, P08920, P08921, P09619, P0C6B7, P0C6N0, P0CW72, P10522, P20938, P21995, P25189, P27573, P37301, P37998, P59823, P59824, P86176, Q01151, Q4VAH7, Q5EAB0, Q5R804, Q640U3, Q6PCB8, Q6WEB5, Q80UL9, Q86XK7
Diamond homologs: A0JM41, A2VD98, A5D7C3, O60487, O60939, O70255, O95297, P06907, P10522, P20938, P25189, P27573, P37301, P54900, Q29RR6, Q32PI9, Q3TEW6, Q3V3F6, Q4KLY3, Q5EAB0, Q5R804, Q6AYT8, Q6UWV2, Q6WEB5, Q7M729, Q7M730, Q86XK7, Q8AVM3, Q8IWT1, Q9D2J4, Q9PWR4, Q08E08, P78310, P97792, Q56A07, Q5R764, Q864L3, Q86YT9, Q8WMV3, Q91664
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PMP22 | “up-regulates activity” | MPZ | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 14 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell | 5 | 43.6× | 4e-06 |
| Adaptive Immune System | 5 | 14.9× | 4e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| immune response-regulating signaling pathway | 5 | 162.7× | 5e-09 |
| cytokine-mediated signaling pathway | 5 | 46.7× | 2e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
720 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 106 |
| Likely pathogenic | 57 |
| Uncertain significance | 328 |
| Likely benign | 101 |
| Benign | 12 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1045186 | NM_000530.8(MPZ):c.437T>C (p.Val146Ala) | Pathogenic |
| 1070661 | NM_000530.8(MPZ):c.345del (p.His115fs) | Pathogenic |
| 1070662 | NM_000530.8(MPZ):c.171G>A (p.Trp57Ter) | Pathogenic |
| 1076512 | NM_000530.8(MPZ):c.638_639del (p.Gly213fs) | Pathogenic |
| 1275760 | NM_000530.8(MPZ):c.112del (p.Val38fs) | Pathogenic |
| 14166 | NM_000530.8(MPZ):c.286A>G (p.Lys96Glu) | Pathogenic |
| 14167 | NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) | Pathogenic |
| 14169 | NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) | Pathogenic |
| 14170 | NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) | Pathogenic |
| 14171 | NM_000530.8(MPZ):c.646-7_647delinsGCAGGAGAG | Pathogenic |
| 14175 | NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) | Pathogenic |
| 14178 | NM_000530.8(MPZ):c.643C>T (p.Gln215Ter) | Pathogenic |
| 14179 | NM_000530.8(MPZ):c.242A>G (p.His81Arg) | Pathogenic |
| 14181 | NM_000530.8(MPZ):c.371C>T (p.Thr124Met) | Pathogenic |
| 14184 | NM_000530.8(MPZ):c.224A>T (p.Asp75Val) | Pathogenic |
| 14185 | NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) | Pathogenic |
| 14186 | NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) | Pathogenic |
| 14189 | NM_000530.8(MPZ):c.184A>T (p.Ile62Phe) | Pathogenic |
| 14191 | NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) | Pathogenic |
| 1419179 | NM_000530.8(MPZ):c.323del (p.Lys108fs) | Pathogenic |
| 14196 | NM_000530.8(MPZ):c.371C>A (p.Thr124Lys) | Pathogenic |
| 14200 | NM_000530.8(MPZ):c.276G>A (p.Val92=) | Pathogenic |
| 1423751 | NM_000530.8(MPZ):c.424del (p.Val142fs) | Pathogenic |
| 1449858 | NM_000530.8(MPZ):c.571C>T (p.Gln191Ter) | Pathogenic |
| 1685953 | NM_000530.8(MPZ):c.401A>T (p.Asp134Val) | Pathogenic |
| 1780739 | NM_000530.8(MPZ):c.181dup (p.Asp61fs) | Pathogenic |
| 1798896 | NM_000530.8(MPZ):c.301dup (p.Trp101fs) | Pathogenic |
| 2016722 | NM_000530.8(MPZ):c.601A>T (p.Lys201Ter) | Pathogenic |
| 2027108 | NM_000530.8(MPZ):c.496del (p.Leu166fs) | Pathogenic |
| 208146 | NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) | Pathogenic |
SpliceAI
814 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:161306169:C:CC | acceptor_gain | 1.0000 |
| 1:161306323:CCTTA:C | donor_loss | 1.0000 |
| 1:161306324:CTTA:C | donor_loss | 1.0000 |
| 1:161306325:TTA:T | donor_loss | 1.0000 |
| 1:161306326:TA:T | donor_loss | 1.0000 |
| 1:161306327:A:AG | donor_loss | 1.0000 |
| 1:161306328:C:G | donor_loss | 1.0000 |
| 1:161306460:TGGCA:T | acceptor_gain | 1.0000 |
| 1:161306461:GGCA:G | acceptor_gain | 1.0000 |
| 1:161306462:GCA:G | acceptor_gain | 1.0000 |
| 1:161306463:CA:C | acceptor_gain | 1.0000 |
| 1:161306463:CAC:C | acceptor_gain | 1.0000 |
| 1:161306465:C:CC | acceptor_gain | 1.0000 |
| 1:161306474:G:C | acceptor_gain | 1.0000 |
| 1:161306474:G:GC | acceptor_gain | 1.0000 |
| 1:161306723:A:AC | donor_gain | 1.0000 |
| 1:161306724:C:CC | donor_gain | 1.0000 |
| 1:161306724:CAG:C | donor_gain | 1.0000 |
| 1:161307252:ACTC:A | donor_loss | 1.0000 |
| 1:161307253:CTCA:C | donor_loss | 1.0000 |
| 1:161307254:TCACC:T | donor_loss | 1.0000 |
| 1:161307255:CACC:C | donor_loss | 1.0000 |
| 1:161307256:A:AC | donor_gain | 1.0000 |
| 1:161307256:ACCG:A | donor_loss | 1.0000 |
| 1:161307257:C:CC | donor_gain | 1.0000 |
| 1:161307257:CCGAA:C | donor_gain | 1.0000 |
| 1:161307420:CAGCA:C | acceptor_gain | 1.0000 |
| 1:161307421:AGCA:A | acceptor_gain | 1.0000 |
| 1:161307422:GCA:G | acceptor_gain | 1.0000 |
| 1:161307423:CA:C | acceptor_gain | 1.0000 |
AlphaMissense
1598 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:161306763:G:C | N131K | 1.000 |
| 1:161306763:G:T | N131K | 1.000 |
| 1:161306775:A:C | C127W | 1.000 |
| 1:161306776:C:G | C127S | 1.000 |
| 1:161306776:C:T | C127Y | 1.000 |
| 1:161306777:A:G | C127R | 1.000 |
| 1:161306777:A:T | C127S | 1.000 |
| 1:161306782:A:G | F125S | 1.000 |
| 1:161306788:C:A | G123V | 1.000 |
| 1:161306789:C:A | G123C | 1.000 |
| 1:161306872:A:C | F95C | 1.000 |
| 1:161307294:C:A | W66C | 1.000 |
| 1:161307294:C:G | W66C | 1.000 |
| 1:161307296:A:G | W66R | 1.000 |
| 1:161307296:A:T | W66R | 1.000 |
| 1:161307342:G:C | C50W | 1.000 |
| 1:161307343:C:G | C50S | 1.000 |
| 1:161307343:C:T | C50Y | 1.000 |
| 1:161307344:A:G | C50R | 1.000 |
| 1:161307344:A:T | C50S | 1.000 |
| 1:161306719:A:T | V146D | 0.999 |
| 1:161306725:A:G | L144P | 0.999 |
| 1:161306766:T:A | K130N | 0.999 |
| 1:161306766:T:G | K130N | 0.999 |
| 1:161306770:A:T | V129D | 0.999 |
| 1:161306776:C:A | C127F | 0.999 |
| 1:161306781:G:C | F125L | 0.999 |
| 1:161306781:G:T | F125L | 0.999 |
| 1:161306782:A:C | F125C | 0.999 |
| 1:161306783:A:G | F125L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000106583 (1:161309655 G>A), RS1000140979 (1:161308175 TAA>T), RS1001362325 (1:161303869 TA>T), RS1001647502 (1:161307559 C>G), RS1001783355 (1:161307922 A>G), RS1001973324 (1:161305695 A>C), RS1002263020 (1:161310111 G>T), RS1002476570 (1:161310402 CCT>C), RS1002599338 (1:161311571 G>A), RS1003036138 (1:161305750 C>G), RS1003040279 (1:161311412 G>C,T), RS1003532722 (1:161311353 T>C), RS1004304706 (1:161310137 G>A,C,T), RS1004678199 (1:161310447 T>C), RS1005267082 (1:161303102 C>A,T)
Disease associations
OMIM: gene MIM:159440 | disease phenotypes: MIM:118220, MIM:607791, MIM:118200, MIM:607677, MIM:180800, MIM:618184, MIM:145900, MIM:605253, MIM:607736, MIM:606482
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Charcot-Marie-Tooth disease | Definitive | Autosomal dominant |
| Charcot-Marie-Tooth disease type 1B | Definitive | Autosomal dominant |
| neuropathy, congenital hypomyelinating, 2 | Definitive | Autosomal dominant |
| Charcot-Marie-Tooth disease dominant intermediate D | Supportive | Autosomal dominant |
| autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain | Supportive | Autosomal dominant |
| Charcot-Marie-Tooth disease type 3 | Supportive | Autosomal dominant |
| Charcot-Marie-Tooth disease type 2I | Supportive | Autosomal dominant |
| Charcot-Marie-Tooth disease type 2J | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| Charcot-Marie-Tooth disease | Definitive | AD |
Mondo (19): Charcot-Marie-Tooth disease (MONDO:0015626), Charcot-Marie-Tooth disease type 1 (MONDO:0019011), Charcot-Marie-Tooth disease dominant intermediate D (MONDO:0011909), Charcot-Marie-Tooth disease type 1B (MONDO:0007307), peripheral neuropathy (MONDO:0005244), Charcot-Marie-Tooth disease type 2I (MONDO:0011889), Roussy-Levy syndrome (MONDO:0008392), neuropathy, congenital hypomyelinating, 2 (MONDO:0020765), motor neuron disorder (MONDO:0020128), Charcot-Marie-Tooth disease type 3 (MONDO:0007790), Charcot-Marie-Tooth disease type 4E (MONDO:0011527), Charcot-Marie-Tooth disease type 2J (MONDO:0011903), sensory peripheral neuropathy (MONDO:0002321), distal hereditary motor neuropathy type 2 (MONDO:0015352), neuropathy, congenital hypomelinating (MONDO:0033352)
Orphanet (15): Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), Charcot-Marie-Tooth disease type 1 (Orphanet:65753), Autosomal dominant intermediate Charcot-Marie-Tooth disease type D (Orphanet:100046), Charcot-Marie-Tooth disease type 1B (Orphanet:101082), Autosomal dominant Charcot-Marie-Tooth disease type 2I (Orphanet:99942), Roussy-Lévy syndrome (Orphanet:3115), Motor neuron disease (Orphanet:98503), Dejerine-Sottas syndrome (Orphanet:64748), Autosomal dominant Charcot-Marie-Tooth disease type 2J (Orphanet:99943), Charcot-Marie-Tooth disease type 4E (Orphanet:99951), Distal hereditary motor neuropathy type 2 (Orphanet:139525), Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (Orphanet:100044), Autosomal dominant Charcot-Marie-Tooth disease type 2M (Orphanet:228179), Genetic motor neuron disease (Orphanet:98505), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)
HPO phenotypes
93 total (30 of 93 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000408 | Progressive sensorineural hearing impairment |
| HP:0000615 | Abnormal pupil morphology |
| HP:0000639 | Nystagmus |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0001171 | Split hand |
| HP:0001178 | Ulnar claw |
| HP:0001252 | Hypotonia |
| HP:0001265 | Hyporeflexia |
| HP:0001270 | Motor delay |
| HP:0001284 | Areflexia |
| HP:0001288 | Gait disturbance |
| HP:0001308 | Tongue fasciculations |
| HP:0001324 | Muscle weakness |
| HP:0001349 | Facial diplegia |
| HP:0001558 | Decreased fetal movement |
| HP:0001761 | Pes cavus |
| HP:0001762 | Talipes equinovarus |
| HP:0001763 | Pes planus |
| HP:0001765 | Hammertoe |
| HP:0002015 | Dysphagia |
| HP:0002066 | Gait ataxia |
| HP:0002070 | Limb ataxia |
| HP:0002136 | Broad-based gait |
| HP:0002174 | Postural tremor |
| HP:0002312 | Clumsiness |
| HP:0002317 | Unsteady gait |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001523_16 | Visceral adipose tissue adjusted for BMI | 8.000000e-06 |
| GCST008156_22 | Hip circumference adjusted for BMI | 4.000000e-07 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (7)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002607 | Charcot-Marie-Tooth Disease | C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200 |
| D008607 | Intellectual Disability | C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539 |
| D016472 | Motor Neuron Disease | C10.574.562; C10.668.467 |
| C564333 | Charcot-Marie-Tooth Disease, Dominant Intermediate D (supp.) | |
| C535417 | Charcot-Marie-Tooth disease, Type 2J (supp.) | |
| C535301 | Charcot-Marie-Tooth disease, Type 4E (supp.) | |
| C580044 | Distal Hereditary Motor Neuropathy, Type II (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs12065184 | MPZ | 0.00 | 0 |
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Resveratrol | affects cotreatment, increases expression, decreases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Nickel | decreases expression | 2 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| ferrous chloride | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | increases expression | 1 |
| Copper | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| N-Nitrosopyrrolidine | increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Quercetin | increases expression | 1 |
| Thiram | increases expression | 1 |
Cellosaurus cell lines
12 cell lines: 8 induced pluripotent stem cell, 3 transformed cell line, 1 finite cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_1K24 | GM05148 | Finite cell line | Male |
| CVCL_1K25 | GM05149 | Transformed cell line | Male |
| CVCL_B0IG | GM28252 | Induced pluripotent stem cell | Male |
| CVCL_JW96 | NYSCF-AG0003-01-MR | Induced pluripotent stem cell | Female |
| CVCL_JW98 | NYSCF-AG0007-01-MR | Induced pluripotent stem cell | Male |
| CVCL_JX00 | NYSCF-AG0009-02-MR | Induced pluripotent stem cell | Male |
| CVCL_JX10 | NYSCF-AG0019-01-MR | Induced pluripotent stem cell | Male |
| CVCL_M916 | GM23721 | Transformed cell line | Female |
| CVCL_QX72 | KUCFRi002-A | Induced pluripotent stem cell | Female |
| CVCL_RZ99 | NYSCF-AG0001-01-MR | Induced pluripotent stem cell | Male |
Clinical trials (associated diseases)
299 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00380965 | PHASE4 | COMPLETED | Evaluation of the Efficacy of Cesamet™ for the Treatment of Pain in Patients With Chemotherapy-Induced Neuropathy |
| NCT00487981 | PHASE4 | TERMINATED | Spinal Cord Stimulation for Painful Diabetic Neuropathy |
| NCT00904202 | PHASE4 | COMPLETED | A Study Of Lidocaine Patch 5% Alone, Gabapentin Alone, And Lidocaine Patch 5% And Gabapentin In Combination For The Relief Of Pain In Patients With Diverse Peripheral Neuropathic Pain Conditions |
| NCT01192113 | PHASE4 | COMPLETED | Safety and Efficacy of Mecobalamin Injection in Peripheral Neuropathies Patients (Study JGAZSY091109) |
| NCT01373983 | PHASE4 | COMPLETED | Intrathecal Bolus Doses of Ziconotide |
| NCT01458015 | PHASE4 | TERMINATED | Tapentadol Versus Oxycodone - a Mechanism-based Treatment Approach in Neuropathic Pain |
| NCT02074267 | PHASE4 | COMPLETED | Clinical Study for Assessment of the Efficacy of Gabapentin (Carbatin and Neurontin) in Patients With Neuropathy Pain |
| NCT02372149 | PHASE4 | UNKNOWN | IVIg for Demyelination in Diabetes Mellitus |
| NCT02670161 | PHASE4 | ENROLLING_BY_INVITATION | Quality Improvement and Practice Based Research in Neurology Using the EMR |
| NCT07022938 | PHASE4 | COMPLETED | Nutritional Supplement for Treating Chemotherapy Induced Neuropathy |
| NCT07025005 | PHASE4 | RECRUITING | Fenofibrate Role in the Prophylaxis From Peripheral Neuropathy Induced by Bortezomib, Lenalidomide and Dexamethasone (VRd) Protocol in the Treatment of Patients With Multiple Myeloma (MM) |
| NCT04762758 | PHASE3 | UNKNOWN | Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients |
| NCT00058071 | PHASE3 | COMPLETED | Amifostine in Treating Peripheral Neuropathy in Patients Who Have Received Chemotherapy for Cancer |
| NCT00125268 | PHASE3 | TERMINATED | Near Infrared Light for the Treatment of Painful Peripheral Neuropathy |
| NCT00195013 | PHASE3 | COMPLETED | Randomized Placebo-Controlled Trial of Glutamine for Breast Cancer Patients With Peripheral Neuropathy |
| NCT00232141 | PHASE3 | COMPLETED | Study of Pregabalin Versus Placebo in the Treatment of Nerve Pain Associated With HIV Neuropathy |
| NCT00264875 | PHASE3 | COMPLETED | Open Label Safety And Efficacy Study Of Pregabalin In Subjects With Nerve Pain Asociated With Human Immunodeficiency Virus (HIV) Neuropathy |
| NCT00369564 | PHASE3 | COMPLETED | Glutamic Acid in Reducing Nerve Damage Caused by Vincristine in Young Patients With Cancer |
| NCT00471445 | PHASE3 | COMPLETED | Topical Amitriptyline and Ketamine Cream in Treating Peripheral Neuropathy Caused by Chemotherapy in Cancer Patients |
| NCT00489411 | PHASE3 | COMPLETED | Duloxetine in Treating Peripheral Neuropathy Caused by Chemotherapy in Patients With Cancer |
| NCT00710554 | PHASE3 | COMPLETED | A Study of Sativex® for Pain Relief of Peripheral Neuropathic Pain, Associated With Allodynia |
| NCT00711880 | PHASE3 | COMPLETED | A Study of Sativex® for Relief of Peripheral Neuropathic Pain Associated With Allodynia. |
| NCT00713323 | PHASE3 | COMPLETED | A Study to Compare the Safety and Tolerability of Sativex® in Patients With Neuropathic Pain. |
| NCT00713817 | PHASE3 | COMPLETED | A Study to Determine the Maintenance of Effect After Long-term Treatment of Sativex® in Subjects With Neuropathic Pain |
| NCT00775645 | PHASE3 | COMPLETED | S0715: Acetyl-L-Carnitine in Preventing Neuropathy in Women With Stage I, II, or IIIA Breast Cancer Undergoing Chemo |
| NCT00872352 | PHASE3 | UNKNOWN | Evaluation of Bortezomib Induced Peripheral Neuropathy of Multiple Myeloma (MM) Patients |
| NCT00998738 | PHASE3 | TERMINATED | Calcium and Magnesium in Preventing Peripheral Neuropathy Caused by Ixabepilone in Patients With Breast Cancer |
| NCT01049217 | PHASE3 | TERMINATED | Pregabalin Versus Placebo In The Treatment Of Neuropathic Pain Associated With HIV Neuropathy |
| NCT01099449 | PHASE3 | COMPLETED | Calcium Gluconate and Magnesium Sulfate in Preventing Neurotoxicity in Patients With Colon Cancer or Rectal Cancer Receiving Oxaliplatin-Based Combination Chemotherapy |
| NCT01288937 | PHASE3 | TERMINATED | A Placebo Controlled, Randomized, Double Blind Trial of Milnacipran for the Treatment of Idiopathic Neuropathy Pain |
| NCT01492920 | PHASE3 | WITHDRAWN | Acetyl-L-Carnitine Hydrochloride in Preventing Peripheral Neuropathy in Patients With Recurrent Ovarian Epithelial Cancer, Primary Peritoneal Cavity Cancer, or Fallopian Tube Cancer Undergoing Chemotherapy |
| NCT01775449 | PHASE3 | COMPLETED | Prevention of Oxaliplatin-induced Neuropathic Pain by a Specific Diet |
| NCT02024191 | PHASE3 | UNKNOWN | The Role of Glutamine for Preventing Oxaliplatin-Induced Peripheral Neuropathy |
| NCT02217267 | PHASE3 | COMPLETED | Long Term Outcome After Serial Lidocaine Infusion in Peripheral Neuropathic Pain |
| NCT02294149 | PHASE3 | UNKNOWN | Vit D3 and Omega 3 in Chemo Induced Neuropathy |
| NCT02311907 | PHASE3 | COMPLETED | Glutathione in Preventing Peripheral Neuropathy Caused by Paclitaxel and Carboplatin in Patients With Ovarian Cancer, Fallopian Tube Cancer, and/or Primary Peritoneal Cancer |
| NCT06071936 | PHASE3 | UNKNOWN | Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy |
| NCT06071975 | PHASE3 | UNKNOWN | Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Diabetic Polyneuropathy |
| NCT06071988 | PHASE3 | UNKNOWN | Long Term Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Traumatic or Post-operative Peripheral Neuropathy |
| NCT06072573 | PHASE3 | UNKNOWN | Efficacy and Tolerability of AP707 in Patients With Chronic Pain Due to Diabetic Polyneuropathy |
Related Atlas pages
- Associated diseases: Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D, autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain, Charcot-Marie-Tooth disease type 3, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, neuropathy, congenital hypomyelinating, 2
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease type 1, Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 3, Charcot-Marie-Tooth disease type 4E, distal hereditary motor neuropathy type 2, hereditary motor neuron disease, motor neuron disorder, neuropathy, congenital hypomelinating, neuropathy, congenital hypomyelinating, 2, Roussy-Levy syndrome, sensory peripheral neuropathy