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Details of RIMS1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| RIMS1 | KIAA0340,RAB3IP2,RIM1 | Q86UR5 | RIMS1_HUMAN | 22999
| ENSG00000079841
| Regulating synaptic membrane exocytosis protein 1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Cone-rod dystrophy 7 (CORD7) [MIM:603649]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Note=The disease may be caused by mutations affecting the gene represented in this entry. |
603649 |
