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CRB1

Official Full Name
crumbs cell polarity complex component 1
Organism
Homo sapiens
GeneID
23418
Background
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]
Synonyms
LCA8; RP12; CRB1-A; CRB1-B; CRB1-C;

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