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Entrez GeneID

Protein Accession#

Gene Name

RHO

Gene Alias

CSNBAD1, MGC138309, MGC138311, OPN2, RP4

Gene Description

rhodopsin

Omim ID

Gene Ontology

Gene Summary

Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked recessive disorder. In the autosomal dominant form,which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor-specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual transduction cascade. Defects in this gene are also one of the causes of congenital stationary night blindness. [provided by RefSeq

Other Designations

opsin 2, rod pigment|retinitis pigmentosa 4, autosomal dominant|rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant)