VAT1L

gene
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Also known as KIAA1576

Summary

VAT1L (vesicle amine transport 1 like, HGNC:29315) is a protein-coding gene on chromosome 16q23.1, encoding Putative NADPH-dependent quinone oxidoreductase VAT1L (Q9HCJ6). Putative NADPH-dependent quinone oxidoreductase.

Predicted to enable oxidoreductase activity and zinc ion binding activity.

Source: NCBI Gene 57687 — RefSeq curated summary.

At a glance

  • GWAS associations: 7
  • Clinical variants (ClinVar): 82 total
  • MANE Select transcript: NM_020927

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29315
Approved symbolVAT1L
Namevesicle amine transport 1 like
Location16q23.1
Locus typegene with protein product
StatusApproved
AliasesKIAA1576
Ensembl geneENSG00000171724
Ensembl biotypeprotein_coding
OMIM620202
Entrez57687

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000302536, ENST00000563850

RefSeq mRNA: 1 — MANE Select: NM_020927 NM_020927

CCDS: CCDS32492

Canonical transcript exons

ENST00000302536 — 9 exons

ExonStartEnd
ENSE000006949907788460877884802
ENSE000009454857782524677825461
ENSE000011433227781692177817050
ENSE000012031237797185077971933
ENSE000012031647797759777980107
ENSE000013210077778856477788915
ENSE000034716667786274877862890
ENSE000035630607787916977879224
ENSE000036894367787637077876473

Expression profiles

Bgee: expression breadth ubiquitous, 199 present calls, max score 98.14.

FANTOM5 (CAGE): breadth broad, TPM avg 9.3825 / max 497.7461, expressed in 712 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
1550745.2135610
1550733.2497583
1550750.5665260
1550720.2694158
1550760.083332

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
pigmented layer of retinaUBERON:000178298.14gold quality
retinaUBERON:000096698.11gold quality
dorsal root ganglionUBERON:000004497.83gold quality
hypothalamusUBERON:000189896.31gold quality
ventricular zoneUBERON:000305395.94gold quality
cerebellumUBERON:000203795.63gold quality
cerebellar cortexUBERON:000212995.53gold quality
superior vestibular nucleusUBERON:000722795.49gold quality
cerebellar hemisphereUBERON:000224595.47gold quality
left ventricle myocardiumUBERON:000656695.35gold quality
nucleus accumbensUBERON:000188295.04gold quality
cardiac muscle of right atriumUBERON:000337995.01gold quality
endothelial cellCL:000011594.95gold quality
trigeminal ganglionUBERON:000167594.84gold quality
right hemisphere of cerebellumUBERON:001489094.70gold quality
lateral globus pallidusUBERON:000247693.82gold quality
medulla oblongataUBERON:000189693.36gold quality
cerebellar vermisUBERON:000472093.36gold quality
caudate nucleusUBERON:000187393.13gold quality
C1 segment of cervical spinal cordUBERON:000646992.85gold quality
spinal cordUBERON:000224092.81gold quality
substantia nigra pars compactaUBERON:000196592.02gold quality
putamenUBERON:000187491.90gold quality
heart right ventricleUBERON:000208091.69gold quality
stromal cell of endometriumCL:000225591.53gold quality
ponsUBERON:000098890.77gold quality
myocardiumUBERON:000234990.55silver quality
islet of LangerhansUBERON:000000690.50gold quality
superior frontal gyrusUBERON:000266190.29gold quality
anterior cingulate cortexUBERON:000983589.99gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 5.

ExperimentMarker?Max mean expression
E-MTAB-9388yes13.73
E-GEOD-135922yes13.11
E-MTAB-5061yes9.23
E-GEOD-137537yes6.23
E-ANND-3yes3.91

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

156 targeting VAT1L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-1193100.0065.93529
HSA-MIR-3924100.0072.092394
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-453199.9969.703181
HSA-MIR-480399.9871.993117
HSA-MIR-27A-3P99.9872.132955
HSA-MIR-27B-3P99.9872.132955
HSA-MIR-998599.9872.112939
HSA-MIR-1213699.9872.815713
HSA-MIR-806899.9873.852376
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-448799.9664.581252
HSA-MIR-96-5P99.9572.802140
HSA-MIR-391099.9571.132227
HSA-MIR-1213399.9271.822006
HSA-MIR-6768-5P99.9267.361942
HSA-MIR-1271-5P99.9171.991972
HSA-MIR-589-3P99.9169.622088
HSA-MIR-124-3P99.8973.743043
HSA-MIR-506-3P99.8973.553057
HSA-MIR-380-3P99.8970.181978

Cross-species orthologs

8 orthologs

OrganismSymbolGene ID
danio_reriovat1lENSDARG00000101280
mus_musculusVat1lENSMUSG00000046844
rattus_norvegicusVat1lENSRNOG00000011989
drosophila_melanogasterDratFBGN0033188
caenorhabditis_elegansWBGENE00010790
caenorhabditis_elegansWBGENE00010791
caenorhabditis_elegansWBGENE00014096
caenorhabditis_elegansWBGENE00017060

Paralogs (17): PTGR1 (ENSG00000106853), VAT1 (ENSG00000108828), TP53I3 (ENSG00000115129), MECR (ENSG00000116353), CRYZ (ENSG00000116791), RTN4IP1 (ENSG00000130347), PTGR2 (ENSG00000140043), SORD (ENSG00000140263), ADH6 (ENSG00000172955), PTGR3 (ENSG00000180011), ADH1A (ENSG00000187758), ADH7 (ENSG00000196344), ADH1B (ENSG00000196616), ADH5 (ENSG00000197894), ADH4 (ENSG00000198099), CRYZL1 (ENSG00000205758), ADH1C (ENSG00000248144)

Protein

Protein identifiers

Putative NADPH-dependent quinone oxidoreductase VAT1LQ9HCJ6 (reviewed: Q9HCJ6)

Alternative names: Synaptic vesicle membrane protein VAT-1 homolog-like, Vesicle amine transport 1 like

All UniProt accessions (1): Q9HCJ6

UniProt curated annotations — full annotation on UniProt →

Function. Putative NADPH-dependent quinone oxidoreductase.

Tissue specificity. Detected in skin fibroblasts.

Similarity. Belongs to the zinc-containing alcohol dehydrogenase family. Quinone oxidoreductase subfamily.

RefSeq proteins (1): NP_065978* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002364Quin_OxRdtase/zeta-crystal_CSConserved_site
IPR011032GroES-like_sfHomologous_superfamily
IPR013154ADH-like_NDomain
IPR020843ERDomain
IPR036291NAD(P)-bd_dom_sfHomologous_superfamily
IPR052100VAT1Family

Pfam: PF08240, PF13602

Catalyzed reactions (Rhea), 1 shown:

  • 2 a quinone + NADPH + H(+) = 2 a 1,4-benzosemiquinone + NADP(+) (RHEA:14269)

UniProt features (52 total): strand 18, helix 15, binding site 9, modified residue 4, compositionally biased region 3, region of interest 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
4A27X-RAY DIFFRACTION2.1

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9HCJ6-F186.190.73

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 (9): 217; 275; 316; 321; 372; 82; 192; 193; 214

Post-translational modifications (4): 392, 393, 395, 396

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 99 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, ATGCAGT_MIR217, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H, AGTCAGC_MIR345, TGCCTTA_MIR124A, LEIN_MIDBRAIN_MARKERS, ZHENG_GLIOBLASTOMA_PLASTICITY_UP, WANG_SMARCE1_TARGETS_UP, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H_QUINONE_OR_SIMILAR_COMPOUND_AS_ACCEPTOR, CAGTATT_MIR200B_MIR200C_MIR429, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, CHICAS_RB1_TARGETS_GROWING

GO Biological Process (0):

GO Molecular Function (4): zinc ion binding (GO:0008270), NADPH dehydrogenase (quinone) activity (GO:0008753), protein binding (GO:0005515), oxidoreductase activity (GO:0016491)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transition metal ion binding1
NAD(P)H dehydrogenase (quinone) activity1
NADPH dehydrogenase activity1
binding1
catalytic activity1

Protein interactions and networks

STRING

1772 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
VAT1LCLEC3AO75596536
VAT1LWWOXQ9NZC7501
VAT1LSYCE1LA8MT33499
VAT1LECHDC2Q86YB7495
VAT1LHIBCHQ6NVY1492
VAT1LACADVLP49748443
VAT1LMAD1L1Q9Y6D9431
VAT1LNUDT7P0C024430
VAT1LALDH2P05091429
VAT1LMAOAP21397427
VAT1LSTRN4Q9NRL3388
VAT1LKRT23Q9C075375
VAT1LTOMM40O96008371
VAT1LOSBPL3Q9H4L5370
VAT1LCTNNA3Q9UI47366

IntAct

20 interactions, top by confidence:

ABTypeScore
SERPIND1VAT1Lpsi-mi:“MI:0915”(physical association)0.590
UBXN2BVAT1Lpsi-mi:“MI:0915”(physical association)0.560
HTTVAT1Lpsi-mi:“MI:0915”(physical association)0.560
ST6GALNAC1EEF1A2psi-mi:“MI:0914”(association)0.560
C11orf24NME2P1psi-mi:“MI:0914”(association)0.530
VAT1LPIBF1psi-mi:“MI:0914”(association)0.530
SLC9A6MAP1LC3B2psi-mi:“MI:0914”(association)0.530
PPP1CAACO2psi-mi:“MI:0914”(association)0.350
MAPTSHTN1psi-mi:“MI:0914”(association)0.350
ATG16L1ESYT2psi-mi:“MI:0914”(association)0.350

BioGRID (15): UBXN2B (Two-hybrid), PIBF1 (Affinity Capture-MS), VAT1L (Affinity Capture-MS), VAT1L (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), VAT1L (Two-hybrid), VAT1L (Affinity Capture-MS), VAT1L (Affinity Capture-MS), VAT1L (Affinity Capture-MS), PIBF1 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), VAT1L (Affinity Capture-MS), VAT1L (Affinity Capture-MS), VAT1L (Affinity Capture-MS), APP (Reconstituted Complex)

ESM2 similar proteins: A0A6N3IN21, A3KCL7, A6QQF5, B0BNC9, O35678, O75911, O77769, O88876, O97764, P00333, P05336, P11415, P14673, P14674, P14675, P17648, P28032, P47199, P50336, Q08257, Q0MVN8, Q0P5F9, Q28452, Q28GQ2, Q2R8Z5, Q3MIE4, Q3UGR5, Q3UNZ8, Q5BJJ5, Q5R4B4, Q5R4S7, Q60HD5, Q62465, Q6AYR6, Q6AYT0, Q75ZX4, Q80TB8, Q8LEB2, Q8R1Q9, Q8R238

Diamond homologs: A0A068ABB7, A0A084R1H6, A0A0B5KU17, A0A0C6E0I7, A0A0F7GFS4, A0A0M4L8I7, A0A0S6XH49, A0A0U4ZX08, A0A0U5GK88, A0A167LUQ4, A0A1L7U4V5, A0A1L9WN37, A0A1U8QN18, A0A1V6PAF7, A0A1W5T1U1, A0A2H3CTK0, A0A3T0QHT6, A0A411L027, A0A443HK66, A0A481WR96, A0A482N9V7, A0A5C1RDA3, A0A6F9DXA0, A0JJU1, A0R0B2, A2QQV0, A5ABG0, B4ER95, B4ER97, B6F209, B8NJG3, D4AU31, D9N1A1, E0D202, E0D204, E9F8M3, G0REX6, G1XU04, G3J9P0, G3JUI8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance68
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1773 predictions. Top by Δscore:

VariantEffectΔscore
16:77788862:G:GTdonor_gain1.0000
16:77788863:A:Tdonor_gain1.0000
16:77788884:G:GTdonor_gain1.0000
16:77788921:G:GGdonor_gain1.0000
16:77813551:G:GTdonor_gain1.0000
16:77816905:C:Gacceptor_gain1.0000
16:77816906:A:AGacceptor_gain1.0000
16:77816906:ATTT:Aacceptor_gain1.0000
16:77816907:T:Gacceptor_gain1.0000
16:77816917:ACAGT:Aacceptor_gain1.0000
16:77816919:A:AGacceptor_gain1.0000
16:77816919:AGT:Aacceptor_gain1.0000
16:77816919:AGTG:Aacceptor_gain1.0000
16:77816920:G:GTacceptor_gain1.0000
16:77816920:GT:Gacceptor_gain1.0000
16:77816920:GTG:Gacceptor_gain1.0000
16:77816920:GTGG:Gacceptor_gain1.0000
16:77816920:GTGGA:Gacceptor_gain1.0000
16:77817046:ATGAG:Adonor_loss1.0000
16:77817047:TGAGG:Tdonor_loss1.0000
16:77817048:GAGGT:Gdonor_loss1.0000
16:77817049:AG:Adonor_loss1.0000
16:77817050:GGTAA:Gdonor_loss1.0000
16:77817051:GTA:Gdonor_loss1.0000
16:77817052:T:Adonor_loss1.0000
16:77825242:CCAG:Cacceptor_loss1.0000
16:77825244:A:AGacceptor_gain1.0000
16:77825244:AGAT:Aacceptor_loss1.0000
16:77825244:AGATT:Aacceptor_gain1.0000
16:77825245:G:GGacceptor_gain1.0000

AlphaMissense

2764 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:77816931:T:CF82L0.999
16:77816933:C:AF82L0.999
16:77816933:C:GF82L0.999
16:77816995:G:AG103E0.999
16:77817009:G:TG108W0.999
16:77817010:G:AG108E0.999
16:77817016:T:AV110D0.999
16:77825285:T:AW135R0.999
16:77825285:T:CW135R0.999
16:77876456:G:AG270E0.999
16:77876456:G:TG270V0.999
16:77884668:G:TG315W0.999
16:77884669:G:AG315E0.999
16:77816930:C:AN81K0.998
16:77816930:C:GN81K0.998
16:77816938:A:TD84V0.998
16:77816950:G:CR88P0.998
16:77817003:T:CC106R0.998
16:77825259:T:AV126D0.998
16:77825288:G:CA136P0.998
16:77825385:C:AA168D0.998
16:77825433:T:AV184E0.998
16:77825436:T:CL185P0.998
16:77862749:G:AG194D0.998
16:77862767:T:CL200P0.998
16:77862771:T:GC201W0.998
16:77862800:G:AG211E0.998
16:77862819:G:CK217N0.998
16:77862819:G:TK217N0.998
16:77876401:G:CD252H0.998

dbSNP variants (sampled 300 via entrez): RS1000007105 (16:77799328 T>C), RS1000015984 (16:77975120 G>A,T), RS1000037090 (16:77863871 G>A,T), RS1000056056 (16:77925558 C>G,T), RS1000079881 (16:77877196 G>T), RS1000086659 (16:77925474 A>G), RS1000088502 (16:77852739 C>G,T), RS1000100721 (16:77952164 T>A,C), RS1000105306 (16:77827512 G>A), RS1000119770 (16:77788633 C>T), RS1000134600 (16:77980285 A>C), RS1000137835 (16:77916096 G>A,C,T), RS1000138121 (16:77864110 T>C,G), RS1000160765 (16:77881442 G>A), RS1000170534 (16:77939811 G>C)

Disease associations

OMIM: gene MIM:620202 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): cerebellar ataxia (MONDO:0000437), intellectual disability (MONDO:0001071)

Orphanet (2): Rare ataxia (Orphanet:102002), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

7 associations (top):

StudyTraitp-value
GCST001915_37Alzheimer’s disease (cognitive decline)4.000000e-07
GCST008152_185Weight8.000000e-06
GCST008962_3Hematology traits5.000000e-07
GCST009359_2LDL cholesterol levels x short total sleep time interaction (1df test)9.000000e-06
GCST009365_4LDL cholesterol levels x short total sleep time interaction (2df test)1.000000e-11
GCST009365_8LDL cholesterol levels x short total sleep time interaction (2df test)2.000000e-10
GCST012168_8Adiponectin levels2.000000e-06

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0004338body weight
EFO:0009186platelet larger cell ratio
EFO:0004611low density lipoprotein cholesterol measurement
EFO:0004502adiponectin measurement

MeSH disease descriptors (2)

DescriptorNameTree numbers
D002524Cerebellar AtaxiaC10.228.140.252.190; C10.597.350.090.500; C23.888.592.350.090.200
D008607Intellectual DisabilityC10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, affects expression, increases expression7
bisphenol Adecreases expression, increases expression3
trichostatin Aaffects cotreatment, decreases expression3
sodium arseniteaffects methylation, decreases expression2
entinostatincreases expression, affects cotreatment2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideincreases expression, decreases expression, affects cotreatment2
Temozolomidedecreases expression, affects response to substance2
Benzo(a)pyreneaffects methylation, increases methylation2
methylmercuric chloridedecreases expression1
lead acetatedecreases expression1
2,5,2’,5’-tetrachlorobiphenyldecreases expression1
zinc chromateincreases abundance, increases expression1
benzo(e)pyreneincreases methylation1
aflatoxin B2increases methylation1
S-(1,2-dichlorovinyl)cysteinedecreases expression, affects response to substance, increases expression, affects cotreatment1
chromium hexavalent ionincreases abundance, increases expression1
monomethylarsonous acidincreases expression1
dorsomorphindecreases expression, affects cotreatment, increases expression1
bisphenol Sincreases methylation1
LDN 193189increases expression, affects cotreatment1
(+)-JQ1 compounddecreases expression1
Decitabineaffects expression1
Sunitinibdecreases expression1
Air Pollutantsdecreases expression, increases abundance1
Carbamazepineaffects expression1
Carmustineaffects response to substance1
Cisplatinaffects expression1
Diethylhexyl Phthalatedecreases expression, increases expression1
Doxorubicindecreases expression1
Estradioldecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00950196PHASE4COMPLETEDAmantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia
NCT04107740PHASE4COMPLETEDC-Trelin Orally Disintegrated(OD) Tablet 5mg in Ataxia Due to Spinocerebellar Degeneration
NCT05657860PHASE4COMPLETEDGuanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479PHASE4RECRUITINGMetformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829PHASE4WITHDRAWNValbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198PHASE4NOT_YET_RECRUITINGDeutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT01970098PHASE3COMPLETEDA Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970111PHASE3COMPLETEDAn Extension Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970124PHASE3COMPLETEDA Long-Term Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01970137PHASE3COMPLETEDA 24-week Open-label Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT02889302PHASE3COMPLETEDAn Additional Confirmatory Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT03408080PHASE3ACTIVE_NOT_RECRUITINGOpen Pilot Trial of BHV-4157
NCT03701399PHASE3ACTIVE_NOT_RECRUITINGTroriluzole in Adult Participants With Spinocerebellar Ataxia
NCT03901638PHASE3TERMINATEDTllsh2910 for Ataxia and Gut Microbiota Alteration in Patients of Multiple System Atrophy
NCT07040137PHASE3RECRUITINGConfirmatory Study 3 of KPS-0373 in Patients With Spinocerebellar Degeneration
NCT02270736PHASE3COMPLETEDClinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT00034242PHASE2COMPLETEDHigh-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration
NCT00202397PHASE2COMPLETEDEffect of Riluzole as a Symptomatic Approach in Patients With Chronic Cerebellar Ataxia
NCT00863538PHASE2COMPLETEDPhase II Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01004016PHASE2COMPLETEDA Study of KPS-0373 in Patients With Spinocerebellar Degeneration (SCD)
NCT01350440PHASE2COMPLETEDSafety and Efficacy of Intravenous Immune Globulin in Treating Spinocerebellar Ataxia
NCT02540655PHASE2COMPLETEDEfficacy and Safety Study of Stemchymal® in Polyglutamine Spinocerebellar Ataxia
NCT03932669PHASE2COMPLETEDEffect of Nilotinib in Cerebellar Ataxia Patients
NCT04301284PHASE2WITHDRAWNStudy of CAD-1883 for Spinocerebellar Ataxia
NCT05125666PHASE2UNKNOWNEfficacy of Dual Task Training on Children With Ataxia After Medulloblastoma Resection
NCT06397274PHASE2NOT_YET_RECRUITINGStemchymal® for Polyglutamine Spinocerebellar Ataxia
NCT02304302PHASE2COMPLETEDDown Syndrome Memantine Follow-up Study
NCT03862950PHASE2COMPLETEDA Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226PHASE2UNKNOWNStudy to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856PHASE2COMPLETEDEvaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00683943PHASE1COMPLETEDLithium Treatment for Patients With Spinocerebellar Ataxia Type I
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  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cerebellar ataxia