Aliases for CRB1 Gene
External Ids for CRB1 Gene
Previous HGNC Symbols for CRB1 Gene
Previous GeneCards Identifiers for CRB1 Gene
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]
GeneCards Summary for CRB1 Gene
CRB1 (Crumbs 1, Cell Polarity Complex Component) is a Protein Coding gene. Diseases associated with CRB1 include Pigmented Paravenous Chorioretinal Atrophy and Leber Congenital Amaurosis 8. Among its related pathways are Hippo signaling pathway and Sertoli-Sertoli Cell Junction Dynamics. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CRB2.
UniProtKB/Swiss-Prot for CRB1 Gene
Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion.