|
Gene id |
25886 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
POC1A Gene UCSC Ensembl |
|
Aliases |
PIX2, SOFT, WDR51A |
|
Gene name |
POC1 centriolar protein A |
|
Alternate names |
POC1 centriolar protein homolog A, WD repeat domain 51A, WD repeat-containing protein 51A, proteome of centriole protein 1A, |
|
Gene location |
3p21.2 (52154422: 52075225) Exons: 13 NC_000020.11
|
|
Gene summary(Entrez) |
POC1 proteins contain an N-terminal WD40 domain and a C-terminal coiled coil domain and are part of centrosomes. They play an important role in basal body and cilia formation. This gene encodes one of the two POC1 proteins found in humans. Mutations in th
|
|
OMIM |
614783 |
|
| Associated diseases |
References |
| Male factor infertility | MIK: 26496357 |
| Cryptorchidism | MIK: 28606200 |
| Male infertility | MIK: 26496357 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 26496357 |
Male infer
tility
|
|
|
|
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
|
|
|
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 |
|