RAB33A

Summary

RAB33A (RAB33A, member RAS oncogene family, HGNC:9773) is a protein-coding gene on chromosome Xq26.1, encoding Ras-related protein Rab-33A (Q14088). The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes.

The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. It is GTP-binding protein and may be involved in vesicle transport.

Source: NCBI Gene 9363 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 99 total — 4 pathogenic, 4 likely-pathogenic
• MANE Select transcript: NM_004794

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9773
Approved symbol	RAB33A
Name	RAB33A, member RAS oncogene family
Location	Xq26.1
Locus type	gene with protein product
Status	Approved
Aliases	RabS10
Ensembl gene	ENSG00000134594
Ensembl biotype	protein_coding
OMIM	300333
Entrez	9363

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000257017, ENST00000970517

RefSeq mRNA: 1 — MANE Select: NM_004794 NM_004794

CCDS: CCDS14621

Canonical transcript exons

ENST00000257017 — 2 exons

Exon	Start	End
ENSE00000869683	130184285	130184870
ENSE00001027928	130171962	130172320

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 93.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0647 / max 156.3454, expressed in 951 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
197547	6.6324	938
197548	0.3441	182
197549	0.0882	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	93.57	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.00	gold quality
prefrontal cortex	UBERON:0000451	91.00	gold quality
spinal cord	UBERON:0002240	90.76	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.75	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.77	gold quality
middle frontal gyrus	UBERON:0002702	88.71	gold quality
ganglionic eminence	UBERON:0004023	88.24	gold quality
cerebellar hemisphere	UBERON:0002245	88.14	gold quality
cerebellar cortex	UBERON:0002129	88.10	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.74	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	87.65	gold quality
middle temporal gyrus	UBERON:0002771	87.59	gold quality
right frontal lobe	UBERON:0002810	87.51	gold quality
frontal cortex	UBERON:0001870	87.46	gold quality
cerebellum	UBERON:0002037	87.09	gold quality
neocortex	UBERON:0001950	86.87	gold quality
cerebral cortex	UBERON:0000956	86.30	gold quality
Ammon’s horn	UBERON:0001954	85.78	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.55	gold quality
cingulate cortex	UBERON:0003027	85.35	gold quality
anterior cingulate cortex	UBERON:0009835	85.24	gold quality
corpus callosum	UBERON:0002336	85.14	gold quality
frontal pole	UBERON:0002795	85.10	gold quality
amygdala	UBERON:0001876	85.07	gold quality
telencephalon	UBERON:0001893	84.92	gold quality
substantia nigra	UBERON:0002038	84.66	gold quality
putamen	UBERON:0001874	84.57	gold quality
Brodmann (1909) area 46	UBERON:0006483	84.37	gold quality
hypothalamus	UBERON:0001898	83.87	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting RAB33A, 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-3925-3P	100.00	69.95	1237
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-508-5P	99.41	64.25	1248
HSA-MIR-297	99.40	69.58	1418
HSA-MIR-3149	98.77	67.13	1639
HSA-MIR-6511B-5P	97.98	65.64	823
HSA-MIR-6811-5P	97.98	64.96	848
HSA-MIR-3665	97.73	65.08	975
HSA-MIR-144-5P	97.66	69.90	531
HSA-MIR-643	97.35	67.91	805

Literature-anchored findings (GeneRIF, showing 1)

• expression was down-regulated in patients with TB and was predominantly expressed in CD8+ T cells. (PMID:16136464)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rab33a	ENSDARG00000057394
mus_musculus	Rab33a	ENSMUSG00000031104
rattus_norvegicus	Rab33a	ENSRNOG00000006698

Paralogs (68): RAB27B (ENSG00000041353), RAB27A (ENSG00000069974), RAB7A (ENSG00000075785), RABL2B (ENSG00000079974), RAB21 (ENSG00000080371), RAB10 (ENSG00000084733), RAB18 (ENSG00000099246), RAB36 (ENSG00000100228), IFT27 (ENSG00000100360), RAB40AL (ENSG00000102128), RAB11A (ENSG00000103769), RAB2A (ENSG00000104388), RAB3D (ENSG00000105514), RAB3A (ENSG00000105649), RAB5C (ENSG00000108774), RAB34 (ENSG00000109113), RAB5B (ENSG00000111540), RAB35 (ENSG00000111737), RAB23 (ENSG00000112210), DNAJC27 (ENSG00000115137), RAB29 (ENSG00000117280), RAB32 (ENSG00000118508), RAB14 (ENSG00000119396), RAB9B (ENSG00000123570), RAB9A (ENSG00000123595), RAB38 (ENSG00000123892), RAB22A (ENSG00000124209), RAB17 (ENSG00000124839), RAB2B (ENSG00000129472), RAB25 (ENSG00000132698), RAB30 (ENSG00000137502), RAB1A (ENSG00000138069), RAB20 (ENSG00000139832), RAB15 (ENSG00000139998), RAB40B (ENSG00000141542), RAB13 (ENSG00000143545), RABL2A (ENSG00000144134), RAB5A (ENSG00000144566), RAB19 (ENSG00000146955), RAB41 (ENSG00000147127)

Protein

Protein identifiers

Ras-related protein Rab-33A — Q14088 (reviewed: Q14088)

Alternative names: Small GTP-binding protein S10

All UniProt accessions (1): Q14088

UniProt curated annotations — full annotation on UniProt →

Function. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. Modulates autophagosome formation through interaction with ATG16L1.

Subunit / interactions. Interacts with ATG16L1; the interaction is important for autophagosome formation.

Subcellular location. Cell membrane.

Tissue specificity. Expressed only in lymphoid cell lines.

Activity regulation. Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Regulated by GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity. Inhibited by GDP dissociation inhibitors (GDIs).

Domain organisation. Switch I, switch II and the interswitch regions are characteristic of Rab GTPases and mediate the interactions with Rab downstream effectors. The switch regions undergo conformational changes upon nucleotide binding which drive interaction with specific sets of effector proteins, with most effectors only binding to GTP-bound Rab.

Similarity. Belongs to the small GTPase superfamily. Rab family.

RefSeq proteins (1): NP_004785* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR041822	Rab33A/B	Family

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (24 total): binding site 17, region of interest 2, lipid moiety-binding region 2, chain 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14088-F1	81.85	0.60

Functional residue map

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

Ligand- & substrate-binding residues (17): 65; 68; 68; 91; 94; 151; 152; 154; 182; 183; 46; 47 …

Post-translational modifications (3): 237, 235, 237

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8854214	TBC/RABGAPs
R-HSA-8873719	RAB geranylgeranylation

MSigDB gene sets: 196 (showing top): BENPORATH_ES_WITH_H3K27ME3, PAX4_01, GOBP_VACUOLE_ORGANIZATION, GCANCTGNY_MYOD_Q6, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, REACTOME_MEMBRANE_TRAFFICKING, CAGCTG_AP4_Q5, SREBP1_02, GOBP_MACROAUTOPHAGY, ZHAN_MULTIPLE_MYELOMA_CD1_UP, CAIRO_HEPATOBLASTOMA_CLASSES_DN, BROWNE_HCMV_INFECTION_24HR_UP, GCM_RING1, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6

GO Biological Process (3): autophagosome assembly (GO:0000045), antigen processing and presentation (GO:0019882), Rab protein signal transduction (GO:0032482)

GO Molecular Function (7): GTPase activity (GO:0003924), G protein activity (GO:0003925), GTP binding (GO:0005525), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (5): Golgi membrane (GO:0000139), endosome (GO:0005768), Golgi apparatus (GO:0005794), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Rab regulation of trafficking	1
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
endomembrane system	2
Atg12 activating enzyme activity	1
protein-phosphatidylethanolamide deconjugating activity	1
Atg12 conjugating enzyme activity	1
Atg12 ligase activity	1
organelle assembly	1
Atg1/ULK1 kinase complex assembly	1
autophagosome organization	1
immune system process	1
small GTPase-mediated signal transduction	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
guanyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
catalytic activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasmic vesicle	1
cytoplasm	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1501 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAB33A	ATG16L1	Q676U5	686
RAB33A	ARF3	P16587	666
RAB33A	WDR41	Q9HAD4	580
RAB33A	SMCR8	Q8TEV9	568
RAB33A	RUFY2	Q8WXA3	529
RAB33A	RUFY3	Q7L099	507
RAB33A	RIC1	Q4ADV7	505
RAB33A	KIAA1191	Q96A73	485
RAB33A	C9orf72	Q96LT7	444
RAB33A	AVL9	Q8NBF6	442
RAB33A	RUFY1	Q96T51	416
RAB33A	DNMT1	P26358	394
RAB33A	TBC1D20	Q96BZ9	389
RAB33A	RUFY4	Q6ZNE9	380
RAB33A	DENND11	A4D1U4	374
RAB33A	HNF4A	P41235	374

IntAct

54 interactions, top by confidence:

A	B	Type	Score
RAB33A	ATG16L1	psi-mi:“MI:0915”(physical association)	0.670
RAB33A	RABAC1	psi-mi:“MI:0915”(physical association)	0.620
Hoxa1	RAB33A	psi-mi:“MI:0915”(physical association)	0.570
RAB33A	Hoxa1	psi-mi:“MI:0915”(physical association)	0.570
RAB33A	ARL6IP1	psi-mi:“MI:0915”(physical association)	0.560
RAB33A	SIAH1	psi-mi:“MI:0915”(physical association)	0.560
CCDC136	RAB33A	psi-mi:“MI:0915”(physical association)	0.560
ARL6IP1	RAB33A	psi-mi:“MI:0915”(physical association)	0.560
SIAH1	RAB33A	psi-mi:“MI:0915”(physical association)	0.560
RAB33A	KRT31	psi-mi:“MI:0915”(physical association)	0.560
KRT34	RAB33A	psi-mi:“MI:0915”(physical association)	0.560
RAB33A	RUFY3	psi-mi:“MI:0915”(physical association)	0.560
RAB33A	PSMF1	psi-mi:“MI:0915”(physical association)	0.560
	RAB33A	psi-mi:“MI:0915”(physical association)	0.560
RAB33A	RUFY2	psi-mi:“MI:0915”(physical association)	0.560
RAB33A	LRP2BP	psi-mi:“MI:0915”(physical association)	0.560
RAB33A	LNX1	psi-mi:“MI:0915”(physical association)	0.560
RAB33A	E6	psi-mi:“MI:0915”(physical association)	0.370
RAB33A	RTN3	psi-mi:“MI:0915”(physical association)	0.370
RAB33A	RTN4	psi-mi:“MI:0915”(physical association)	0.370
HCN1	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (48): RAB33A (Two-hybrid), ARL6IP1 (Two-hybrid), CCDC136 (Two-hybrid), RABAC1 (Two-hybrid), RTN3 (Two-hybrid), RTN4 (Two-hybrid), RAB33A (PCA), Hoxa1 (Affinity Capture-Western), RAB33A (Affinity Capture-Western), RAB33A (Proximity Label-MS), ATG16L2 (Two-hybrid), RAB33A (Two-hybrid), RAB33A (Two-hybrid), RAB33A (Two-hybrid), RAB33A (Two-hybrid)

ESM2 similar proteins: A5D7F5, C8VQY7, G4MYS1, H9BW96, I1RMF2, O04157, O24461, O76742, O94655, O97572, P09527, P18067, P24408, P31022, P36411, P36864, P51149, P51150, P51151, P91580, P93267, P97950, Q14088, Q39573, Q3T0F5, Q40787, Q41640, Q43463, Q54QR3, Q5M7D1, Q5R615, Q5R9Y4, Q5RDE5, Q5ZHV1, Q6IMK3, Q6IML7, Q6IMM1, Q7ZYF1, Q8CFP6, Q948K8

Diamond homologs: A4D1S5, A4FV54, F1PTE3, O24466, O35963, O76173, P01123, P10536, P11620, P16976, P17609, P20791, P22125, P22127, P22128, P24409, P28186, P28188, P31584, P33723, P34139, P34140, P35280, P35286, P35294, P36863, P40392, P51153, P51156, P55258, P61006, P61007, P61026, P61027, P61028, P62820, P62821, P62822, P70550, P91580

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	4
Uncertain significance	43
Likely benign	13
Benign	7

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	Pathogenic
694667	NM_004208.4(AIFM1):c.705G>C (p.Gln235His)	Pathogenic
732668	NM_004208.4(AIFM1):c.1013G>A (p.Gly338Glu)	Pathogenic
732670	NM_004208.4(AIFM1):c.784G>A (p.Gly262Ser)	Pathogenic
1299364	NM_004208.4(AIFM1):c.776C>G (p.Ala259Gly)	Likely pathogenic
162481	NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu)	Likely pathogenic
214083	NM_004208.4(AIFM1):c.1184T>G (p.Val395Gly)	Likely pathogenic
430466	NM_004208.4(AIFM1):c.1204C>A (p.Pro402Thr)	Likely pathogenic

SpliceAI

115 predictions. Top by Δscore:

Variant	Effect	Δscore
X:130184276:A:AG	acceptor_gain	1.0000
X:130184277:T:G	acceptor_gain	1.0000
X:130184283:A:AG	acceptor_gain	1.0000
X:130184283:AG:A	acceptor_gain	1.0000
X:130184284:G:GT	acceptor_gain	1.0000
X:130184284:GG:G	acceptor_gain	1.0000
X:130184284:GGT:G	acceptor_gain	1.0000
X:130184284:GGTTC:G	acceptor_gain	1.0000
X:130172318:AAG:A	donor_loss	0.9900
X:130172321:G:A	donor_loss	0.9900
X:130172322:T:G	donor_loss	0.9900
X:130172330:G:GT	donor_gain	0.9900
X:130184273:T:A	acceptor_gain	0.9900
X:130172284:G:GT	donor_gain	0.9800
X:130184284:GGTT:G	acceptor_gain	0.9800
X:130172328:AGGG:A	donor_gain	0.9600
X:130172329:GGGG:G	donor_gain	0.9600
X:130172308:C:T	donor_gain	0.9500
X:130172306:G:GT	donor_gain	0.9300
X:130172344:G:GT	donor_gain	0.9300
X:130172321:G:GG	donor_gain	0.9200
X:130172335:C:A	donor_gain	0.9100
X:130172334:TC:T	donor_gain	0.9000
X:130184279:TTCCA:T	acceptor_gain	0.8700
X:130184280:TCCA:T	acceptor_gain	0.8700
X:130184281:CCAGG:C	acceptor_gain	0.8700
X:130184282:CA:C	acceptor_gain	0.8700
X:130184283:A:AC	acceptor_gain	0.8700
X:130184284:G:T	acceptor_gain	0.8700
X:130172339:TCC:T	donor_gain	0.8500

AlphaMissense

1569 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:130172189:G:A	G43R	1.000
X:130172189:G:C	G43R	1.000
X:130172189:G:T	G43W	1.000
X:130172190:G:A	G43E	1.000
X:130172190:G:T	G43V	1.000
X:130172204:G:C	G48R	1.000
X:130172205:G:A	G48D	1.000
X:130172205:G:T	G48V	1.000
X:130172207:A:C	K49Q	1.000
X:130172211:C:T	T50I	1.000
X:130172217:T:C	L52P	1.000
X:130172265:C:T	T68I	1.000
X:130172270:G:C	G70R	1.000
X:130172271:G:A	G70D	1.000
X:130172279:T:C	F73L	1.000
X:130172281:C:A	F73L	1.000
X:130172281:C:G	F73L	1.000
X:130184294:T:A	W90R	1.000
X:130184294:T:C	W90R	1.000
X:130184296:G:C	W90C	1.000
X:130184296:G:T	W90C	1.000
X:130184297:G:C	D91H	1.000
X:130184297:G:T	D91Y	1.000
X:130184298:A:C	D91A	1.000
X:130184298:A:G	D91G	1.000
X:130184298:A:T	D91V	1.000
X:130184299:C:A	D91E	1.000
X:130184299:C:G	D91E	1.000
X:130184307:G:A	G94D	1.000
X:130184318:T:C	F98L	1.000

dbSNP variants (sampled 300 via entrez): RS1000119357 (X:130148252 C>T), RS1000161710 (X:130171917 C>G), RS1000180109 (X:130153309 C>A,T), RS1000206609 (X:130167924 T>C), RS1000259157 (X:130167612 A>T), RS1000342656 (X:130112927 C>A), RS1000396585 (X:130113814 T>C), RS1000417081 (X:130120016 C>T), RS1000463996 (X:130175463 C>A), RS1000550847 (X:130156738 C>A), RS1000562438 (X:130158892 T>C), RS1000604565 (X:130156036 T>C), RS1000676416 (X:130109831 C>G,T), RS1000681081 (X:130184322 G>A), RS1000734507 (X:130183755 A>G)

Disease associations

OMIM: gene MIM:300333 | disease phenotypes: MIM:300816, MIM:609060, MIM:310490, MIM:118220, MIM:300232

GenCC curated gene-disease

Mondo (5): severe X-linked mitochondrial encephalomyopathy (MONDO:0010437), combined oxidative phosphorylation deficiency (MONDO:0000732), Charcot-Marie-Tooth disease X-linked recessive 4 (MONDO:0010689), Charcot-Marie-Tooth disease (MONDO:0015626), spondyloepimetaphyseal dysplasia, Bieganski type (MONDO:0010275)

Orphanet (6): Severe X-linked mitochondrial encephalomyopathy (Orphanet:238329), X-linked Charcot-Marie-Tooth disease type 4 (Orphanet:101078), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), X-linked hereditary sensory and autonomic neuropathy with deafness (Orphanet:139583), Spondyloepimetaphyseal dysplasia, Bieganski type (Orphanet:168448), Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome (Orphanet:83629)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST008103_151	Bipolar disorder	5.000000e-06
GCST008839_319	Height	2.000000e-14

MeSH disease descriptors (2)

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
C536671	Skeletal dysplasia coarse facies mental retardation (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression, affects expression	4
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	decreases expression, affects cotreatment	2
Arsenic Trioxide	increases expression, affects cotreatment	2
Panobinostat	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression, affects cotreatment, increases expression	2
p-Chloromercuribenzoic Acid	decreases expression, affects cotreatment	2
TL8-506	affects cotreatment, increases expression	1
chloroacetaldehyde	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
trichostatin A	decreases expression, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
belinostat	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
licochalcone B	increases expression	1
gardiquimod	increases expression, decreases reaction	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Copper	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	decreases expression	1

Clinical trials (associated diseases)

59 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT00271635	PHASE2	COMPLETED	Ascorbic Acid Treatment in CMT1A Trial (AATIC)
NCT01401257	PHASE2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT02561702	PHASE2	COMPLETED	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease
NCT02967679	PHASE2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT03124459	PHASE2	TERMINATED	Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
NCT03254199	PHASE2	TERMINATED	A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
NCT03943290	PHASE2	TERMINATED	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
NCT05777226	PHASE2	UNKNOWN	Research of SORD-CMT Natural History and Epalrestat Treatment
NCT06482437	PHASE2	COMPLETED	Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
NCT01289704	PHASE2/PHASE3	UNKNOWN	Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
NCT00541164	PHASE1/PHASE2	COMPLETED	Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease
NCT05361031	PHASE1/PHASE2	COMPLETED	The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
NCT07223632	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
NCT00149045	Not specified	COMPLETED	Follow up and Observation of Charcot Marie Tooth Disease in Families
NCT01193075	Not specified	RECRUITING	Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
NCT01203085	Not specified	COMPLETED	Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
NCT01455623	Not specified	COMPLETED	Development and Validation of a Disability Severity Index for CMT
NCT01918826	Not specified	UNKNOWN	Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs
NCT02001038	Not specified	COMPLETED	Survey of Current Management of Orthopaedic Complications in CMT Patients
NCT02011204	Not specified	COMPLETED	Study of Electrical Impedance Myography (EIM) in ALS
NCT02194010	Not specified	COMPLETED	Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
NCT02429947	Not specified	COMPLETED	An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients
NCT02532244	Not specified	COMPLETED	Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT02788734	Not specified	COMPLETED	Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies
NCT02979145	Not specified	UNKNOWN	Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03460951	Not specified	COMPLETED	Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC)
NCT03715283	Not specified	COMPLETED	Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care
NCT03782883	Not specified	COMPLETED	The Impact of Charcot-Marie-Tooth Disease in the Real World
NCT03810508	Not specified	TERMINATED	A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
NCT03966287	Not specified	COMPLETED	Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
NCT04010188	Not specified	RECRUITING	A Registered Cohort Study on Charcot-Marie-Tooth Disease
NCT04283175	Not specified	COMPLETED	Validation Study of Posturology Platforms for Evaluating Postural Control of Hemiparetic and Neuro-muscular Patients
NCT04461613	Not specified	UNKNOWN	Physical Activity in Persons With Charcot-Marie-Tooth: Developing a Measurement Instrument
NCT04786522	Not specified	COMPLETED	Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease
NCT04967716	Not specified	UNKNOWN	Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
NCT04980807	Not specified	COMPLETED	Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls
NCT05011006	Not specified	NOT_YET_RECRUITING	NT-3 Levels and Function in Individuals With CMT