|
Gene id |
1861 |
| Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
TOR1A Gene UCSC Ensembl |
|
Aliases |
DQ2, DYT1 |
|
Gene name |
torsin family 1 member A |
|
Alternate names |
torsin-1A, dystonia 1 protein, dystonia 1, torsion (autosomal dominant; torsin A), torsin A, torsin ATPase 1, torsin ATPase-1A, |
|
Gene location |
9q34.11 (129824135: 129812941) Exons: 5 NC_000016.10
|
|
Gene summary(Entrez) |
The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in th
|
|
OMIM |
605204 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Associated diseases |
References |
| Primary dystonia | KEGG: H00831 |
| Dystonia | GAD: 12975293 |
| Parkinson disease | GAD: 19038309 |
| Spermatogenesis defects | MIK: 30246678 |
| Primary blepharospasm | GAD: 19202559 |
| Important for spermatogenesis | MIK: 30246678 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 30246678 |
Important
for sperma
togenesis
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
|