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MGP002647

Record overview

MGPD IDMGP002647
Gene ID6121
SpeciesHomo sapiens (Human)
Gene Nameretinal pigment epithelium-specific protein 65kDa
Gene Symbol RPE65
SynonymsBCO3; LCA2; RP20; rd12; mRPE65; sRPE65;
Alternate namesretinoid isomerohydrolase; BCO family, member 3; RBP-binding membrane protein; all-trans-retinyl-palmitate hydrolase; p63; retinal pigment epithelium-specific 65 kDa protein; retinitis pigmentosa 20 (autosomal recessive); retinol isomerase;
Chromosome1
Map Location1p31
EC Number3.1.1.64
SummaryThis gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for RPE65

Proteins

retinoid isomerohydrolase
Refseq ID:NP_000320
Protein GI:4506591
UniProt ID:Q16518
mRNA ID:NM_000329
Length:533
RefSeq Status:
MSIQVEHPAGGYKKLFETVEELSSPLTAHVTGRIPLWLTGSLLRCGPGLFEVGSEPFYHLFDGQALLHKFDFKEGHVTYHRRFIRTDAYVRAMTEKRIVI
TEFGTCAFPDPCKNIFSRFFSYFRGVEVTDNALVNVYPVGEDYYACTETNFITKINPETLETIKQVDLCNYVSVNGATAHPHIENDGTVYNIGNCFGKNF
SIAYNIVKIPPLQADKEDPISKSEIVVQFPCSDRFKPSYVHSFGLTPNYIVFVETPVKINLFKFLSSWSLWGANYMDCFESNETMGVWLHIADKKRKKYL
NNKYRTSPFNLFHHINTYEDNGFLIVDLCCWKGFEFVYNYLYLANLRENWEEVKKNARKAPQPEVRRYVLPLNIDKADTGKNLVTLPNTTATAILCSDET
IWLEPEVLFSGPRQAFEFPQINYQKYCGKPYTYAYGLGLNHFVPDRLCKLNVKTKETWVWQEPDSYPSEPIFVSHPDALEEDDGVVLSVVVSPGAGQKPA
YLLILNAKDLSEVARAEVEINIPVTFHGLFKKS
 
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