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, Jul 2008]
Function:
Photoreceptor required for image-forming vision at low light intensity. Required for photoreceptor cell viability after birth. Light-induced isomerization of 11-cis to all-trans retinal triggers a conformational change leading to G-protein activation and release of all-trans retinal.
Subcellular Location:
Membrane. Synthesized in the inner segment (IS) of rod photoreceptor cells before vectorial transport to the rod outer segment (OS) photosensory cilia.
Tissue Specificity:
Rod shaped photoreceptor cells which mediates vision in dim light.
Post-translational modifications:
Phosphorylated on some or all of the serine and threonine residues present in the SLCterminal region.
Contains one covalently linked retinal chromophore.
DISEASE:
Retinitis pigmentosa 4.
Night blindness, congenital stationary, autosomal dominant 1
Similarity:
Belongs to the G-protein coupled receptor 1 family. Opsin subfamily.
SWISS:
P08100
Gene ID:
6010
Database links:
Entrez Gene: 6010 Human
Entrez Gene: 212541 Mouse
Entrez Gene: 24717 Rat
Omim: 36380 Human
SwissProt: P08100 Human
SwissProt: P15409 Mouse
SwissProt: P51489 Rat
Unigene: 247565 Human
Unigene: 2965 Mouse
Unigene: 406156 Mouse
Unigene: 92530 Rat
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