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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CRB1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID23418
Official gene symbolCRB1
Full namecrumbs homolog 1 (Drosophila)
Aliases,LCA8,RP12,
Gene summaryThis 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.
LocationChromosome: 1   Locus: 1q31-q32.1
Gene position197237334 - 197447585  Map Viewer
Gene orientationplus
Gene size210252 bp
Gene sequence
OMIM ID604210