|
Gene id |
8842 |
| Gene Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
PROM1 Gene UCSC Ensembl |
|
Aliases |
AC133, CD133, CORD12, MCDR2, MSTP061, PROML1, RP41, STGD4 |
|
Gene name |
prominin 1 |
|
Alternate names |
prominin-1, antigen AC133, hProminin, hematopoietic stem cell antigen, prominin-like protein 1, |
|
Gene location |
4p15.32 (16084058: 15968225) Exons: 35 NC_000004.12
|
|
Gene summary(Entrez) |
This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutatio
|
|
OMIM |
604365 |
|
| Associated diseases |
References |
| Endometriosis | INFBASE: 26753483 |
| Cryptorchidism | MIK: 28606200 |
| Male infertility | MIK: 31054360 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 31054360 |
Male infer
tility
|
|
|
70 infertile me
n: 60 NOA (20 w
ith Hypospermat
ogenesis, 20 wi
th Maturation A
rrest, and 20 w
ith Sertoli Cel
l Only Syndrome
) and 10 OA
|
Male infertility |
CD133
CD24
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|