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Details of CHM gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| CHM | REP1,TCD | P24386 | RAE1_HUMAN | 1121
| ENSG00000188419
| Rab proteins geranylgeranyltransferase component A 1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Choroideremia (CHM) [MIM:303100]: An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy. Note=The disease is caused by mutations affecting the gene represented in this entry. |
303100 |
