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- Table of Contents
Facts about Retinoid isomerohydrolase.
Also capable of catalyzing the isomerization of lutein into meso-zeaxanthin an eye-specific carotenoid (PubMed:28874556). The soluble form binds vitamin A (all-trans- retinol), making it available for LRAT processing to all-trans- retinyl ester.
Human | |
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Gene Name: | RPE65 |
Uniprot: | Q16518 |
Entrez: | 6121 |
Belongs to: |
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carotenoid oxygenase family |
All-trans-retinyl-palmitate hydrolase; EC 3.1.1.64; EC 5.2.1.7; LCA2p63; mRPE65; RBP-binding membrane protein; rd12; Retinal pigment epithelium-specific 65 kDa protein; retinal pigment epithelium-specific protein (65kD); retinal pigment epithelium-specific protein 65kDa; retinitis pigmentosa 20 (autosomal recessive); retinoid isomerohydrolase; Retinol isomerase; RP20; sRPE65
Mass (kDA):
60.948 kDA
Human | |
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Location: | 1p31.3 |
Sequence: | 1; NC_000001.11 (68428822..68450322, complement) |
Retina (at protein level). Retinal pigment epithelium specific.
Cytoplasm. Cell membrane; Lipid-anchor. Microsome membrane. Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when unpalmitoylated. Undergoes light-dependent intracellular transport to become more concentrated in the central region of the retina pigment epithelium cells.
PMID: 7633413 by Nicoletti A., et al. Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium.
PMID: 9501220 by Morimura H., et al. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis.