QuickView for RPE65;jsessionid=FF1B71614589EB5FF8FDB16E9373CE78 (gene)

Gene Symbol:

RPE65 Homo sapiens

Full name:

RPE65, retinoid isomerohydrolase

Synonyms:

BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65, retinoid isomerohydrolase, BCO family, member 3, RBP-binding membrane protein, all-trans-retinyl-palmitate hydrolase, meso-zeaxanthin isomerase, retinal pigment epithelium specific protein 65, retinal pigment epithelium-specific 65 kDa protein, retinal pigment epithelium-specific protein 65kDa, retinitis pigmentosa 20 (autosomal recessive), retinol isomerase

Genomic Location:

Chr 1: 68667095-68688230

Description:

The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and ox...

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The protein encoded by this gene is a component of the vitamin A visual cycle of the retina which supplies the 11-cis retinal chromophore of the photoreceptors opsin visual pigments. It is a member of the carotenoid cleavage oxygenase superfamily. All members of this superfamily are non-heme iron oxygenases with a seven-bladed propeller fold and oxidatively cleave carotenoid carbon:carbon double bonds. However, the protein encoded by this gene has acquired a divergent function that involves the concerted O-alkyl ester cleavage of its all-trans retinyl ester substrate and all-trans to 11-cis double bond isomerization of the retinyl moiety. As such, it performs the essential enzymatic isomerization step in the synthesis of 11-cis retinal. Mutations in this gene are associated with early-onset severe blinding disorders such as Leber congenital.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Canis lupus familiaris ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGNNNNNNKCCAR_UNKNOWN ,  TITF1_Q3 ,  CDX2_Q5 ,  NF1_Q6 ,  NF1_Q6_01 ,  TGTTTGY_HNF3_Q6 ,  BRN2_01

Cytogenetic Map:

1p31.3

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