Gene Symbol | CRB1 |
Entrez Gene ID | 23418 |
Full Name | crumbs 1, cell polarity complex component |
Synonyms | LCA8,RP12 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternate splicing results in multiple transcript variants, some protein coding and some non-protein coding.[provided by RefSeq, Apr 2012]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa-12, autosomal recessive, 600105 (3); Leber congenital amaurosis 8, 613835 (3); Pigmented paravenous chorioretinal atrophy, 172870 (3) |