PMP22

Summary

PMP22 (peripheral myelin protein 22, HGNC:9118) is a protein-coding gene on chromosome 17p12, encoding Peripheral myelin protein 22 (Q01453). Might be involved in growth regulation, and in myelinization in the peripheral nervous system. It is haploinsufficient (ClinGen: sufficient evidence).

This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 5376 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Charcot-Marie-Tooth disease type 1A (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 16
• Clinical variants (ClinVar): 941 total — 104 pathogenic, 37 likely-pathogenic
• Phenotypes (HPO): 130
• Druggable target: yes — 213 molecules with ChEMBL bioactivity
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000304

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9118
Approved symbol	PMP22
Name	peripheral myelin protein 22
Location	17p12
Locus type	gene with protein product
Status	Approved
Aliases	HNPP, GAS3, Sp110, HMSNIA
Ensembl gene	ENSG00000109099
Ensembl biotype	protein_coding
OMIM	601097
Entrez	5376

Gene structure

Transcript identifiers

Ensembl transcripts: 44 — 36 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000312280, ENST00000395936, ENST00000395938, ENST00000426385, ENST00000431343, ENST00000471150, ENST00000494511, ENST00000580497, ENST00000580584, ENST00000612492, ENST00000643451, ENST00000644020, ENST00000646419, ENST00000674651, ENST00000674673, ENST00000674707, ENST00000674868, ENST00000674871, ENST00000674947, ENST00000675197, ENST00000675350, ENST00000675551, ENST00000675808, ENST00000675819, ENST00000675854, ENST00000675950, ENST00000676002, ENST00000676161, ENST00000676194, ENST00000676221, ENST00000676329, ENST00000901368, ENST00000901369, ENST00000901370, ENST00000901371, ENST00000901372, ENST00000901373, ENST00000901374, ENST00000953631, ENST00000953632, ENST00000953633, ENST00000953634, ENST00000953635, ENST00000953636

RefSeq mRNA: 6 — MANE Select: NM_000304 NM_000304, NM_001281455, NM_001281456, NM_001330143, NM_153321, NM_153322

CCDS: CCDS11168, CCDS82078

Canonical transcript exons

ENST00000312280 — 5 exons

Exon	Start	End
ENSE00000855493	15260650	15260761
ENSE00001954487	15265154	15265326
ENSE00003558191	15259094	15259193
ENSE00003612568	15239471	15239611
ENSE00003845828	15229779	15231080

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 77.4537 / max 1387.9851, expressed in 1668 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164680	42.8001	1504
164679	12.7843	1373
164677	11.5274	1616
164683	8.0446	594
164674	0.6209	241
164678	0.5906	330
164675	0.3601	171
164682	0.3501	188
164676	0.1692	71
164681	0.1050	45

Top tissues by expression

299 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
olfactory bulb	UBERON:0002264	99.97	gold quality
trigeminal ganglion	UBERON:0001675	99.94	gold quality
dorsal root ganglion	UBERON:0000044	99.92	gold quality
nerve	UBERON:0001021	99.85	gold quality
tibial nerve	UBERON:0001323	99.85	gold quality
synovial joint	UBERON:0002217	99.48	gold quality
skin of hip	UBERON:0001554	99.37	gold quality
cranial nerve II	UBERON:0000941	99.33	gold quality
calcaneal tendon	UBERON:0003701	99.33	gold quality
inferior olivary complex	UBERON:0002127	99.27	gold quality
cartilage tissue	UBERON:0002418	99.26	gold quality
middle frontal gyrus	UBERON:0002702	99.25	gold quality
inferior vagus X ganglion	UBERON:0005363	99.24	gold quality
parietal pleura	UBERON:0002400	99.18	gold quality
sural nerve	UBERON:0015488	99.10	gold quality
left uterine tube	UBERON:0001303	99.09	gold quality
pleura	UBERON:0000977	99.05	gold quality
corpus callosum	UBERON:0002336	99.05	gold quality
endocervix	UBERON:0000458	99.01	gold quality
lower lobe of lung	UBERON:0008949	98.97	gold quality
visceral pleura	UBERON:0002401	98.95	gold quality
endometrium epithelium	UBERON:0004811	98.92	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.90	gold quality
mucosa of stomach	UBERON:0001199	98.89	gold quality
vena cava	UBERON:0004087	98.89	gold quality
spinal cord	UBERON:0002240	98.88	gold quality
upper lobe of lung	UBERON:0008948	98.82	gold quality
upper lobe of left lung	UBERON:0008952	98.81	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.75	gold quality
adipose tissue	UBERON:0001013	98.73	gold quality

Single-cell (SCXA)

Detected in 25 experiment(s), a significant marker in 25.

Experiment	Marker?	Max mean expression
E-GEOD-124263	yes	3501.48
E-CURD-126	yes	3360.62
E-HCAD-11	yes	3284.50
E-MTAB-8142	yes	2538.69
E-HCAD-24	yes	1344.14
E-HCAD-5	yes	778.94
E-MTAB-9388	yes	517.44
E-HCAD-1	yes	96.95
E-GEOD-125970	yes	71.95
E-MTAB-6701	yes	69.69
E-MTAB-8410	yes	63.50
E-GEOD-134144	yes	38.43
E-HCAD-10	yes	35.48
E-GEOD-135922	yes	23.01
E-MTAB-10287	yes	19.68

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

129 targeting PMP22, 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-6740-5P	100.00	65.64	932
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-548AZ-5P	99.83	69.94	3230

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• both functions of PMP22, in regulating Schwann cell differentiation and contributing to peripheral myelin compaction, are affected by its overexpression. (PMID:11456309)
• deletion spanning the 3’ region of the PMP22 gene, causing only a partial deletion of one copy of the gene. (PMID:12207933)
• SSCP analysis of this gene in Croatian patients (PMID:12211648)
• Conformation of the transmembrane domains in peripheral myelin protein 22 is studied using solution-phase synthesis. (PMID:12823620)
• Sequence deletion in the PMP22 gene was noted in a case of hereditary neuropathy with liability to pressure palsy complicated by hypoglossal neuropathy (PMID:14581692)
• distinct mutations in PMP22 gene is found in brachial palsy. (PMID:15083696)
• we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have a Charcot-Marie-Tooth type 1 variable phenotype. (PMID:15099590)
• we report a large family showing characteristic phenotypes of Charcot-Marie-Tooth type 1A along with deafness in an autosomal dominant fashion. We detected a sequence variation (c.68C>G) leading to a T23R missense mutation in PMP22. (PMID:15099592)
• a PMP22 mutation (Ser22Phe) may play a role in hereditary neuropathy (PMID:15205993)
• 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)
• We report the clinical and electrophysiological findings observed in a kindred with three members affected by HNPP due to a deletion containing exons 4 and 5 of the PMP22 gene. (PMID:15564036)
• At postnatal day 4 Pmp22 transgenic mice show strongly reduced expression of genes important for cholesterol synthesis. (PMID:15755691)
• The differences in sensorineural hearing impairment may be explained by the differences in PMP22 expression. (PMID:15891642)
• A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy. (PMID:15955700)
• point mutation in the PMP22 gene is a rare cause of hereditary neuropathy. (PMID:16199442)
• The PMP22 duplication rate in Chinese patients with CMT is 31.9%(36/113). PMP22 deletion is the common cause of hereditary neuropathy with liability to pressure palsies. (PMID:16215943)
• As a result of missorting and inefficient proteasomal degradation, the aggregation of PMP22 and recruitment of autophagosomes and lysosomes are key factors in the subcellular pathogenesis of CMT1A neuropathies. (PMID:16326107)
• PMP22 forms a complex with alpha6beta4 integrin in cultured colonic adenocarcinoma cells. (PMID:16436605)
• T118M PMP22 mutation causes partial loss of function and hereditary neuropathy with liability to pressure palsies. (PMID:16437560)
• CMT represents a heterogeneous group of disorders at the molecular level. Testing for the CMT1A duplication (i.e., duplication of PMP22) alone yields an accurate molecular diagnosis in approximately half of all patients. (PMID:16481890)
• determined the N-terminal part of Siva as the binding region for CD27; the peroxisomal membrane protein PMP22 is a new interaction partner of Siva and may be involved in the host response against CVB3. (PMID:16683188)
• The phenotypic expression is identical in patients with Leu7fs mutation and patients with HNPP caused by chromosome 17p11.2 deletion. Reduction of PMP22 is sufficient to cause the full HNPP phenotype. (PMID:17620487)
• This study investigated a 17-years-old girl who led to our detecting a novel mutation in PMP22 gene. The mutation was also detected in her father and corresponded to a deletion of one tymidine at position 11 in exon2 (c.11delT). (PMID:17707409)
• Results show PMP22 is highly helical, shows evidence of stable tertiary structure, and exhibits a strong tendency to dimerize. (PMID:17824619)
• The rate of duplication was 92.3’ (36/39) in the patients whereas it was zero in the control samples. (PMID:17917930)
• Our findings suggest that in a subgroup of CMT1A patients there is an increase in clinical severity over generations. The mechanism responsible for this observation remains unknown. Our findings should be validated on a larger cohort of CMT1A families. (PMID:18438698)
• study reports a novel point mutation in a family affected with Roussy-Levy syndrome (PMID:18592125)
• novel 227delG mutation of PMP22 gives a mild form of hereditary neuropathy with liability to pressure palsy with atypical clinical and electrophysiological findings. (PMID:18642376)
• Deletions in both PMP22 alleles caused Charcot-Marie-Tooth disease with a Dejerine-Sottas disease phenotype. (PMID:18698610)
• The results lead to the hypothesis that ER quality control recognizes the G150D and L16P mutant forms of PMP22 as defective through mechanisms closely related to their conformational instability and/or slow folding. (PMID:18795802)
• 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)
• Data show that Med25 is coordinately expressed with Pmp22 gene dosage and expression in transgenic mice and rats, and suggest a potential role of this protein in the molecular etiology of Charcot-Marie-Tooth disease. (PMID:19290556)
• The extra copy of PMP22 in Charcot-Marie-Tooth 1A results in disruption of the tightly regulated expression of PMP22, thus, variability of PMP22 levels, rather than absolute level of PMP22, may play an important role in the pathogenesis of CMT1A. (PMID:19447823)
• Loss of motoneurons (MNs) in spinal cords from transgenic mice over-expressing Pmp22 (Pmp22(tg)) is demonstrated, while mice lacking Pmp22 [Pmp22(ko) knockouts] exhibit normal MN numbers at the age (60 days) of Charcot-Marie-Tooth disease symptoms. (PMID:19493167)
• PMP22 has a role in determining phenotype of Charcot-Marie-Tooth disease [case report] (PMID:19705173)
• study characterized a patient manifesting with an atypical form of hereditary neuropathy with liability to pressure palsies caused by a new Thr99fsX110 mutation in the PMP22 gene (PMID:19830275)
• Copy number variation upstream of PMP22 is associated with Charcot-Marie-Tooth disease. (PMID:19888301)
• the type of PMP22 point mutations, the nature of the amino acid change, and the position of the altered amino acid play a role in determining the severity of the phenotype (PMID:19909487)
• PMP22 gene duplications and deletions are associated with Charcot-Marie-Tooth disease type 1A and hereditary neuro pathy with liability to pressure palsies. (PMID:19930872)
• The role of monocyte chemoattractant protein-1 (MCP-1/CCL2) as a regulator of nerve macrophages and neural damage including axonopathy and demyelination, was investigated. (PMID:20093502)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pmp22b	ENSDARG00000060457
danio_rerio	pmp22a	ENSDARG00000105223
mus_musculus	Pmp22	ENSMUSG00000018217
rattus_norvegicus	Pmp22	ENSRNOG00000003338

Paralogs (10): LIM2 (ENSG00000105370), NKG7 (ENSG00000105374), GSG1 (ENSG00000111305), EMP1 (ENSG00000134531), EMP3 (ENSG00000142227), CLDND2 (ENSG00000160318), GSG1L (ENSG00000169181), TMEM202 (ENSG00000187806), EMP2 (ENSG00000213853), GSG1L2 (ENSG00000214978)

Protein

Protein identifiers

Peripheral myelin protein 22 — Q01453 (reviewed: Q01453)

Alternative names: Growth arrest-specific protein 3

All UniProt accessions (10): Q01453, A0A2R8Y5L5, A0A6Q8PF08, A0A6Q8PF92, A0A6Q8PFD5, A0A6Q8PFS0, A8MU75, J3KQW0, J3KT36, Q6FH25

UniProt curated annotations — full annotation on UniProt →

Function. Might be involved in growth regulation, and in myelinization in the peripheral nervous system.

Subcellular location. Cell membrane.

Post-translational modifications. Ubiquitinated by the DCX(DCAF13) E3 ubiquitin ligase complex, leading to its degradation.

Disease relevance. Charcot-Marie-Tooth disease, demyelinating, type 1A (CMT1A) [MIM:118220] 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. 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. Hereditary neuropathy with liability to pressure palsies (HNPP) [MIM:162500] A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas. The disease is caused by variants affecting the gene represented in this entry. Charcot-Marie-Tooth disease, demyelinating, type 1E (CMT1E) [MIM:118300] An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy. The disease is caused by variants affecting the gene represented in this entry. Inflammatory demyelinating polyneuropathy (IDP) [MIM:139393] Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the PMP-22/EMP/MP20 family.

RefSeq proteins (6): NP_000295, NP_001268384, NP_001268385, NP_001317072, NP_696996, NP_696997 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003936	PMP22	Family
IPR004031	PMP22/EMP/MP20/Claudin	Family
IPR004032	PMP22_EMP_MP20	Family
IPR050579	PMP-22/EMP/MP20-like	Family

Pfam: PF00822

UniProt features (49 total): sequence variant 38, topological domain 5, transmembrane region 4, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q01453-F1	89.87	0.63

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 41

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9619665	EGR2 and SOX10-mediated initiation of Schwann cell myelination

MSigDB gene sets: 966 (showing top): WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, TGGTGCT_MIR29A_MIR29B_MIR29C, chr17p12, BENPORATH_ES_WITH_H3K27ME3, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, YAGI_AML_WITH_INV_16_TRANSLOCATION, KAAB_FAILED_HEART_ATRIUM_DN, MODULE_45, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER

GO Biological Process (10): apoptotic process (GO:0006915), chemical synaptic transmission (GO:0007268), peripheral nervous system development (GO:0007422), negative regulation of cell population proliferation (GO:0008285), negative regulation of neuron projection development (GO:0010977), cell differentiation (GO:0030154), bleb assembly (GO:0032060), myelin assembly (GO:0032288), nervous system development (GO:0007399), myelination (GO:0042552)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), compact myelin (GO:0043218), synapse (GO:0045202), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Nervous system development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
system development	2
cellular anatomical structure	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
anterograde trans-synaptic signaling	1
nervous system development	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
regulation of neuron projection development	1
neuron projection development	1
negative regulation of cell projection organization	1
cellular developmental process	1
plasma membrane bounded cell projection assembly	1
cellular component assembly involved in morphogenesis	1
myelination	1
axon ensheathment	1
binding	1
membrane	1
cell periphery	1
apical junction complex	1
tight junction	1
myelin sheath	1
cell junction	1

Protein interactions and networks

STRING

382 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PMP22	RNMT	O43148	971
PMP22	MPZL1	O95297	955
PMP22	GJB1	P08034	941
PMP22	CLDN11	O75508	854
PMP22	PRX	Q9BXM0	784
PMP22	EGR2	P11161	780
PMP22	SH3TC2	Q8TF17	725
PMP22	MTMR2	Q13614	723
PMP22	RNGTT	O60942	718
PMP22	LIM2	P55344	639
PMP22	NEFL	P07196	597
PMP22	GAS2	O43903	594
PMP22	PLP1	P04400	591
PMP22	MBP	P02686	552
PMP22	MAG	P20916	511

IntAct

190 interactions, top by confidence:

A	B	Type	Score
PMP22	SMIM3	psi-mi:“MI:0915”(physical association)	0.810
KLRC1	PMP22	psi-mi:“MI:0915”(physical association)	0.720
PMP22	CREB3	psi-mi:“MI:0915”(physical association)	0.560
PMP22	SGCB	psi-mi:“MI:0915”(physical association)	0.560
PMP22	ERVFRD-1	psi-mi:“MI:0915”(physical association)	0.560
PMP22	AQP2	psi-mi:“MI:0915”(physical association)	0.560
PMP22	TMEM80	psi-mi:“MI:0915”(physical association)	0.560
PMP22	CLDN5	psi-mi:“MI:0915”(physical association)	0.560
PMP22	KCNN4	psi-mi:“MI:0915”(physical association)	0.560
PMP22	CD3G	psi-mi:“MI:0915”(physical association)	0.560
PMP22	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (75): PMP22 (Two-hybrid), SMIM3 (Two-hybrid), SYVN1 (Affinity Capture-Western), AMFR (Affinity Capture-Western), PMP22 (Affinity Capture-Western), RER1 (Affinity Capture-Western), CANX (Affinity Capture-Western), CREB3 (Two-hybrid), SMIM3 (Two-hybrid), PMP22 (Two-hybrid), PMP22 (Two-hybrid), PMP22 (Two-hybrid), PMP22 (Two-hybrid), PMP22 (Two-hybrid), PMP22 (Two-hybrid)

ESM2 similar proteins: B0BM39, B3VSC2, B5X3I6, F7BWT7, O14494, O14817, O35566, O42602, O42603, O43688, O60636, O62772, O75954, O88956, O95857, O95858, P35353, P47866, P48509, P60588, Q01453, Q06AA5, Q13324, Q3SYV5, Q3ZBV0, Q4L208, Q5RAP3, Q5RAZ3, Q5ZJ75, Q60748, Q6DCQ3, Q6GMK6, Q6WL85, Q86UF1, Q8BJU2, Q8K593, Q8R3S2, Q8R4D1, Q90812, Q91ZH7

Diamond homologs: A5A6N6, F1QIK8, O35912, O88662, P16646, P25094, P47801, P54848, P54849, P54850, P54851, P54852, Q01453, Q2NKU9, Q58DR6, Q5RAZ3, Q5RCY3, Q66HH2, Q6WL85, Q9QYW5, Q9TQZ3, P20274, Q2KIY2

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
PMP22	“up-regulates quantity by expression”	ITGA6	“transcriptional regulation”
PMP22	“up-regulates activity”	MPZ	binding
ITGA6	“up-regulates activity”	PMP22	binding
ITGB4	“up-regulates activity”	PMP22	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

941 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	104
Likely pathogenic	37
Uncertain significance	406
Likely benign	245
Benign	39

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069349	NC_000002.11:g.(?231033820)(231086456_?)del	Pathogenic
1070719	NC_000017.10:g.(?15132094)(15169674_?)dup	Pathogenic
1070720	NC_000017.10:g.(?15134214)(15164064_?)dup	Pathogenic
1070721	NC_000017.10:g.(?15134234)(15164044_?)dup	Pathogenic
1072721	NM_000304.4(PMP22):c.236C>T (p.Ser79Phe)	Pathogenic
1074659	NC_000017.10:g.(?15133097)(15164054_?)del	Pathogenic
1074660	NC_000017.10:g.(?15134234)(15164044_?)del	Pathogenic
1074661	NC_000017.10:g.(?15162401)(15162520_?)del	Pathogenic
1120168	Single allele	Pathogenic
1120169	Single allele	Pathogenic
127097	GRCh38/hg20 17p12(chr17:14170534-15591587)x4	Pathogenic
1390383	NM_080424.4(SP110):c.436C>T (p.Gln146Ter)	Pathogenic
1397854	NM_000304.4(PMP22):c.181del (p.Trp61fs)	Pathogenic
1402707	NC_000017.10:g.(?15133084)(15134407_?)del	Pathogenic
1402717	NC_000017.10:g.(?15142778)(15142938_?)del	Pathogenic
1451662	NM_080424.4(SP110):c.1933del (p.Leu645fs)	Pathogenic
1452083	NM_000304.4(PMP22):c.117del (p.Trp39fs)	Pathogenic
1453125	NM_000304.4(PMP22):c.215C>A (p.Ser72Ter)	Pathogenic
1454853	NC_000017.10:g.(?15162401)(15162523_?)del	Pathogenic
1454856	NC_000017.10:g.(?15133084)(15164054_?)dup	Pathogenic
1458064	NM_080424.4(SP110):c.1775_1778del (p.Val591_Ser592insTer)	Pathogenic
1458399	NM_000304.4(PMP22):c.319+1G>T	Pathogenic
1459288	NM_000304.4(PMP22):c.78+1G>C	Pathogenic
1459615	NC_000017.10:g.(?15133097)(15164054_?)dup	Pathogenic
1459892	NC_000017.10:g.(?15133084)(15164054_?)del	Pathogenic
1460016	NC_000002.11:g.(?231042234)(231042416_?)del	Pathogenic
1460409	NC_000017.10:g.(?15134214)(15164064_?)del	Pathogenic
1912459	NM_080424.4(SP110):c.886del (p.Ser296fs)	Pathogenic
2024159	NM_080424.4(SP110):c.463A>T (p.Arg155Ter)	Pathogenic
2044604	NM_000304.4(PMP22):c.36C>G (p.His12Gln)	Pathogenic

SpliceAI

900 predictions. Top by Δscore:

Variant	Effect	Δscore
17:15231076:CAGAC:C	acceptor_gain	1.0000
17:15231078:GAC:G	acceptor_gain	1.0000
17:15231078:GACCT:G	acceptor_loss	1.0000
17:15231080:CCT:C	acceptor_loss	1.0000
17:15231081:C:A	acceptor_loss	1.0000
17:15231081:C:CC	acceptor_gain	1.0000
17:15231082:T:A	acceptor_loss	1.0000
17:15239470:CCAG:C	donor_gain	1.0000
17:15239607:CCATT:C	acceptor_gain	1.0000
17:15239608:CATT:C	acceptor_gain	1.0000
17:15239608:CATTC:C	acceptor_gain	1.0000
17:15239610:TT:T	acceptor_gain	1.0000
17:15239612:C:CC	acceptor_gain	1.0000
17:15260648:A:AC	donor_gain	1.0000
17:15260649:C:CC	donor_gain	1.0000
17:15260649:CG:C	donor_gain	1.0000
17:15260649:CGCTG:C	donor_gain	1.0000
17:15262427:A:AC	donor_gain	1.0000
17:15262427:ACAG:A	donor_gain	1.0000
17:15262427:ACAGC:A	donor_gain	1.0000
17:15262428:C:CC	donor_gain	1.0000
17:15262428:CA:C	donor_gain	1.0000
17:15262428:CAG:C	donor_gain	1.0000
17:15262428:CAGC:C	donor_gain	1.0000
17:15262428:CAGCC:C	donor_gain	1.0000
17:15239464:AACTT:A	donor_loss	0.9900
17:15239465:ACTTA:A	donor_loss	0.9900
17:15239466:CTTAC:C	donor_loss	0.9900
17:15239468:TA:T	donor_loss	0.9900
17:15239469:A:AC	donor_gain	0.9900

AlphaMissense

1030 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:15259155:C:A	W39C	0.999
17:15259155:C:G	W39C	0.999
17:15230952:C:G	G150R	0.998
17:15230953:G:C	S149R	0.998
17:15230953:G:T	S149R	0.998
17:15230955:T:G	S149R	0.998
17:15230982:A:G	W140R	0.998
17:15230982:A:T	W140R	0.998
17:15239502:A:C	F96L	0.998
17:15239502:A:T	F96L	0.998
17:15239504:A:G	F96L	0.998
17:15239562:G:C	S76R	0.998
17:15239562:G:T	S76R	0.998
17:15239564:T:G	S76R	0.998
17:15239575:G:C	S72W	0.998
17:15259157:A:G	W39R	0.998
17:15259157:A:T	W39R	0.998
17:15259190:A:G	W28R	0.998
17:15259190:A:T	W28R	0.998
17:15230951:C:T	G150D	0.997
17:15239491:C:T	G100E	0.997
17:15239503:A:G	F96S	0.997
17:15259188:C:A	W28C	0.997
17:15259188:C:G	W28C	0.997
17:15230926:T:A	K158N	0.996
17:15230926:T:G	K158N	0.996
17:15239492:C:G	G100R	0.996
17:15239492:C:T	G100R	0.996
17:15239503:A:C	F96C	0.995
17:15239530:A:G	L87P	0.995

dbSNP variants (sampled 300 via entrez): RS1000004006 (17:15233965 G>A), RS1000153375 (17:15262269 T>A,C), RS1000183579 (17:15229468 T>C), RS1000348387 (17:15264101 G>A), RS1000362801 (17:15253547 C>T), RS1000389686 (17:15257441 G>A), RS1000682740 (17:15245160 A>G,T), RS1000701735 (17:15251620 T>C), RS1000734846 (17:15244927 G>A), RS1000941524 (17:15238750 G>A,T), RS1001008427 (17:15232526 C>T), RS1001387714 (17:15262228 A>G), RS1001399548 (17:15252943 C>A,G,T), RS1001470763 (17:15234975 C>A,G), RS1001473392 (17:15233358 G>C,T)

Disease associations

OMIM: gene MIM:601097 | disease phenotypes: MIM:235550, MIM:162500, MIM:118220, MIM:145900, MIM:118300, MIM:139393, MIM:180800, MIM:607684

GenCC curated gene-disease

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease type 1A	Definitive	Autosomal dominant
hereditary neuropathy with liability to pressure palsies	Definitive	Autosomal dominant
hepatic veno-occlusive disease-immunodeficiency syndrome	Strong	Autosomal recessive
Charcot-Marie-Tooth disease type 1E	Strong	Autosomal dominant
Charcot-Marie-Tooth disease type 3	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (3)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Charcot-Marie-Tooth disease type 1A	Definitive	AD
hereditary neuropathy with liability to pressure palsies	Definitive	AD
hepatic veno-occlusive disease-immunodeficiency syndrome	Definitive	AR

Mondo (12): hepatic veno-occlusive disease-immunodeficiency syndrome (MONDO:0009338), Charcot-Marie-Tooth disease type 1 (MONDO:0019011), hereditary neuropathy with liability to pressure palsies (MONDO:0008087), peripheral neuropathy (MONDO:0005244), Charcot-Marie-Tooth disease type 1A (MONDO:0007309), Charcot-Marie-Tooth disease type 3 (MONDO:0007790), Charcot-Marie-Tooth disease type 1E (MONDO:0007311), Guillain-Barre syndrome, familial (MONDO:0007691), Roussy-Levy syndrome (MONDO:0008392), Charcot-Marie-Tooth disease (MONDO:0015626), distal hereditary motor neuropathy (MONDO:0018894), Charcot-Marie-Tooth disease type 2E (MONDO:0011894)

Orphanet (11): Hepatic veno-occlusive disease-immunodeficiency syndrome (Orphanet:79124), Charcot-Marie-Tooth disease type 1 (Orphanet:65753), Hereditary neuropathy with liability to pressure palsies (Orphanet:640), Charcot-Marie-Tooth disease type 1A (Orphanet:101081), Dejerine-Sottas syndrome (Orphanet:64748), Roussy-Lévy syndrome (Orphanet:3115), Charcot-Marie-Tooth disease type 1E (Orphanet:90658), Acute inflammatory demyelinating polyradiculoneuropathy (Orphanet:98916), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), Distal hereditary motor neuropathy (Orphanet:53739), Autosomal dominant Charcot-Marie-Tooth disease type 2E (Orphanet:99939)

HPO phenotypes

130 total (30 of 130 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000360	Tinnitus
HP:0000365	Hearing impairment
HP:0000407	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:0001263	Global developmental delay
HP:0001265	Hyporeflexia
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001308	Tongue fasciculations
HP:0001324	Muscle weakness
HP:0001337	Tremor
HP:0001605	Vocal cord paralysis
HP:0001608	Abnormality of the voice
HP:0001761	Pes cavus
HP:0001762	Talipes equinovarus
HP:0001763	Pes planus
HP:0001765	Hammertoe
HP:0001884	Talipes calcaneovalgus
HP:0001954	Recurrent fever
HP:0002066	Gait ataxia
HP:0002070	Limb ataxia

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST000224_6	Chronic lymphocytic leukemia	6.000000e-10
GCST001762_889	Obesity-related traits	6.000000e-06
GCST001806_26	Corneal structure	7.000000e-10
GCST002299_9	Chronic lymphocytic leukemia	5.000000e-13
GCST002550_23	Allergic rhinitis	9.000000e-07
GCST003170_2	Subcutaneous adipose tissue	2.000000e-07
GCST003542_22	Night sleep phenotypes	5.000000e-06
GCST003818_84	Resting heart rate	7.000000e-14
GCST004099_8	B-cell malignancies (chronic lymphocytic leukemia, Hodgkin lymphoma or multiple myeloma) (pleiotropy)	1.000000e-07
GCST004131_130	Inflammatory bowel disease	6.000000e-06
GCST004132_109	Crohn’s disease	1.000000e-13
GCST004146_4	Chronic lymphocytic leukemia	4.000000e-32
GCST004898_2	Preterm birth (maternal effect)	5.000000e-08
GCST005647_10	Amyotrophic lateral sclerosis	9.000000e-08
GCST005860_3	Cholangiocarcinoma in primary sclerosing cholangitis (time to event)	1.000000e-06
GCST009391_1134	Metabolite levels	8.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005115	metabolic rate measurement
EFO:0004345	corneal topography
EFO:0003917	premature birth
EFO:0005939	parental genotype effect measurement
EFO:0010489	glycerophosphocholine measurement

MeSH disease descriptors (5)

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
C537986	Charcot-Marie-Tooth disease, Type 1E (supp.)
C537994	Charcot-Marie-Tooth disease, Type 2E (supp.)
C537257	Hepatic venoocclusive disease with immunodeficiency (supp.)
C536965	Tomaculous neuropathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL1293298 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

213 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 538,219 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL103	PROGESTERONE	4	162,141
CHEMBL104	CLOTRIMAZOLE	4	56,325
CHEMBL1071	OXAPROZIN	4	51,044
CHEMBL1082607	SALMETEROL XINAFOATE	4	15,201
CHEMBL1083993	AMIODARONE HYDROCHLORIDE	4	3,265
CHEMBL1092	TRIHEXYPHENIDYL HYDROCHLORIDE	4	7,793
CHEMBL1113	AMOXAPINE	4	20,128
CHEMBL1116	RALOXIFENE HYDROCHLORIDE	4	28,574
CHEMBL1117	IDARUBICIN	4	136,065
CHEMBL1133	OXYBUTYNIN CHLORIDE	4	8,751
CHEMBL1159	PINACIDIL ANHYDROUS	4	6,303
CHEMBL1200326	NICARDIPINE HYDROCHLORIDE	4	3,903
CHEMBL1200330	PILOCARPINE HYDROCHLORIDE	4	14,680
CHEMBL1200332	PROTRIPTYLINE HYDROCHLORIDE	4	2,629
CHEMBL1200383	BENZTROPINE MESYLATE	4	4,524
CHEMBL1200399	BUSPIRONE HYDROCHLORIDE	4	4,891
CHEMBL1200418	DOBUTAMINE HYDROCHLORIDE	4	2,745
CHEMBL1200469	PROMAZINE HYDROCHLORIDE	4	2,273
CHEMBL1200479	DICYCLOMINE HYDROCHLORIDE	4	4,309
CHEMBL1200494	GUANFACINE HYDROCHLORIDE	4	2,675
CHEMBL1200495	HYDROCORTISONE SODIUM SUCCINATE	4
CHEMBL1200503	BROMOCRIPTINE MESYLATE	4
CHEMBL1200517	DIHYDROERGOTAMINE MESYLATE	4
CHEMBL1200561	DOXAZOSIN MESYLATE	4
CHEMBL1200636	CYCLOBENZAPRINE HYDROCHLORIDE	4
CHEMBL1200638	DEXBROMPHENIRAMINE MALEATE	4
CHEMBL1200710	CLOMIPRAMINE HYDROCHLORIDE	4
CHEMBL1200714	CHLORMEZANONE	4
CHEMBL1200750	PROMETHAZINE HYDROCHLORIDE	4
CHEMBL1200781	CITALOPRAM HYDROBROMIDE	4

PharmGKB: 1 entry (VIP=true, CPIC=false)

ChEMBL bioactivities

54 potent at pChembl≥5 of 699 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.67	Potency	21.3	nM	CHEMBL1358402
7.32	Potency	47.8	nM	ROTENONE
7.32	Potency	47.8	nM	PACLITAXEL
7.22	Potency	60.1	nM	CHEMBL192566
7.12	Potency	75.7	nM	EMETINE HYDROCHLORIDE
7.07	Potency	84.9	nM	AMSACRINE HYDROCHLORIDE
6.87	Potency	134.6	nM	KENPAULLONE
6.67	Potency	213.3	nM	CHEMBL1357894
6.67	Potency	213.3	nM	CHEMBL1440857
6.62	Potency	239.3	nM	CAMPTOTHECIN
6.42	Potency	379.3	nM	CHEMBL124267
6.42	Potency	379.3	nM	NICLOSAMIDE
6.37	Potency	425.6	nM	IDARUBICIN
6.32	Potency	477.5	nM	CHEMBL1255868
6.22	Potency	601.2	nM	CHEMBL1605057
6.12	Potency	756.9	nM	CHEMBL1256839
6.02	Potency	952.8	nM	CHEMBL371811
5.97	Potency	1069	nM	CHEMBL112816
5.87	Potency	1346	nM	CHEMBL1559663
5.87	Potency	1346	nM	SR-2640
5.87	Potency	1346	nM	5-NITRO-2-PHENYLPROPYLAMINOBENZOIC ACID [NPPB]
5.77	Potency	1694	nM	CHEMBL35482
5.72	Potency	1901	nM	CHEMBL97760
5.72	Potency	1901	nM	CHEMBL1315457
5.62	Potency	2393	nM	ISOTRETINOIN
5.57	Potency	2686	nM	CHEMBL1200450
5.57	Potency	2686	nM	TYRPHOSTIN A9
5.57	Potency	2686	nM	2-METHOXYESTRADIOL
5.57	Potency	2686	nM	ESTRONE
5.52	Potency	3013	nM	OXOTREMORINE METHIODIDE
5.52	Potency	3013	nM	CHEMBL1256851
5.52	Potency	3013	nM	CHEMBL70880
5.52	Potency	3013	nM	TETRACAINE HYDROCHLORIDE
5.42	Potency	3793	nM	CYCLOSPORINE
5.42	Potency	3793	nM	CHEMBL545050
5.37	Potency	4256	nM	CHEMBL1256727
5.37	Potency	4256	nM	CHEMBL24983
5.32	Potency	4776	nM	FLUOROURACIL
5.22	Potency	6012	nM	CALCIMYCIN
5.22	Potency	6012	nM	CHEMBL1435120
5.12	Potency	7569	nM	ELLIPTECINE
5.12	Potency	7569	nM	PYRROLIDINE DITHIOCARBAMIC ACID, AMMONIUM SALT
5.12	Potency	7569	nM	TRANILAST
5.07	Potency	8492	nM	CHEMBL14276
5.07	Potency	8492	nM	CHEMBL1330357
5.07	Potency	8492	nM	CHEMBL429095
5.07	Potency	8492	nM	NONIVAMIDE
5.07	Potency	8492	nM	CHEMBL2110371
5.07	Potency	8492	nM	BAY-11-7085
5.02	Potency	9528	nM	SANGUINARIUM CHLORIDE

CTD chemical–gene interactions

67 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
Estradiol	affects cotreatment, increases expression, decreases expression, decreases reaction	3
Tretinoin	decreases expression	3
Cyclosporine	decreases expression	3
bisphenol A	increases expression, affects cotreatment	2
potassium chromate(VI)	affects cotreatment, decreases expression, increases expression	2
Decitabine	affects expression, increases expression	2
Ascorbic Acid	decreases expression	2
Benzo(a)pyrene	increases methylation, affects methylation, increases expression	2
Cisplatin	affects expression, affects cotreatment, decreases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Iron	decreases abundance, decreases expression, increases abundance, increases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
pirinixic acid	affects binding, increases activity, increases expression	1
trichostatin A	increases expression	1
ferric ammonium citrate	increases abundance, increases expression	1
beta-lapachone	increases expression	1
afimoxifene	decreases expression, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
zinc chloride	increases expression	1
sodium arsenite	increases expression	1
tobacco tar	decreases expression, decreases reaction	1
diallyl disulfide	decreases expression, decreases reaction	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
chromium hexavalent ion	affects expression	1
3-nitrobenzanthrone	decreases expression	1
pinostrobin	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

ChEMBL screening assays

1 unique, capped per target: 1 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1614171	Functional	PUBCHEM_BIOASSAY: qHTS Assay for Modulators of Human Peripheral Myelin Protein 22 (PMP22) Expression/Activity. (Class of assay: confirmatory)	PubChem BioAssay data set

Cellosaurus cell lines

16 cell lines: 10 induced pluripotent stem cell, 4 transformed cell line, 2 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_1K22	GM05146	Finite cell line	Female
CVCL_1K23	GM05147	Transformed cell line	Female
CVCL_1K24	GM05148	Finite cell line	Male
CVCL_1K25	GM05149	Transformed cell line	Male
CVCL_A2WJ	GM26577	Transformed cell line	Male
CVCL_A4EY	CMT1A-1-hiPSCs 1	Induced pluripotent stem cell	Male
CVCL_A4EZ	CMT1A-1-hiPSCs 2	Induced pluripotent stem cell	Male
CVCL_A4FA	CMT1A-1-hiPSCs 3	Induced pluripotent stem cell	Male
CVCL_A4FB	CMT1A-2-hiPSCs 1	Induced pluripotent stem cell	Male
CVCL_A4FC	CMT1A-2-hiPSCs 2	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

312 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)
NCT02579759	PHASE3	COMPLETED	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)
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