|
Gene id |
23230 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
VPS13A Gene UCSC Ensembl |
|
Aliases |
CHAC, CHOREIN |
|
Gene name |
vacuolar protein sorting 13 homolog A |
|
Alternate names |
vacuolar protein sorting-associated protein 13A, chorea-acanthocytosis protein, vacuolar protein sorting 13A, |
|
Gene location |
9q21.2 (77177352: 77421536) Exons: 76 NC_000006.12
|
|
Gene summary(Entrez) |
The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternativ
|
|
OMIM |
605978 |
|
| Associated diseases |
References |
| Spermatogenesis defects | MIK: 29928881 |
| Core neuroacanthocytosis syndromes | GAD: H00832 |
| Choreoacanthocytosis | KEGG: H01432 |
| Cryptorchidism | MIK: 28606200 |
| Impaired sperm motility | MIK: 29928881 |
| Male infertility | MIK: 29928881 |
| Spermatogenic defects | MIK: 31037746 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29928881 |
Impaired s
perm motil
ity, Male
infertilit
y
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
19 (6 controls
, 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 31037746 |
Spermatoge
nic defect
s
|
|
|
16 (1 control,
15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|