|
Gene id |
79083 |
| Gene Summary Protein Summary Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
MLPH Gene UCSC Ensembl |
|
Aliases |
SLAC2-A |
|
Gene name |
melanophilin |
|
Alternate names |
melanophilin, exophilin-3, slp homolog lacking C2 domains a, synaptotagmin-like protein 2a, |
|
Gene location |
2q37.3 (237486409: 237555321) Exons: 20 NC_000023.11
|
|
Gene summary(Entrez) |
This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse function
|
|
OMIM |
606526 |
Protein Summary
|
|
| Associated diseases |
References |
| Male subfertility | MIK: 28566207 |
| Griscelli syndrome | KEGG: H02022 |
| Cryptorchidism | MIK: 28606200 |
| Male subfertility | MIK: 28566207 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 28566207 |
Male subfe
rtility
|
Methylation studies |
|
108 (21 proven
fertile "contro
ls", and 57 sub
fertile "cases"
)
|
Male infertility |
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|