Symbol: Name: ID: |
RPE65 retinal pigment epithelium-specific protein 65kDa GFS:249 |
Gene name: | RPE65 |
Chromosome: | 1p31 |
Previous Symbols: | RP20 |
Previous Names: | retinal pigment epithelium-specific protein (65kD) |
Aliases: | LCA2, rd12 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:98001 | Rat Genome Database ID: | RGD:621396 |
HGNC ID: | HGNC:10294 | RefSeq IDs: | NM_000329 |
Entrez Gene ID: | 6121 | Ensembl Gene ID: | ENSG00000116745 |
VEGA IDs: | OTTHUMG00000009208 | UniProt ID: | Q16518 |
UCSC ID: | uc001dei.1 | OMIM ID: | 180069 |
Pubmed: | PMID8340400 | ||
CCDS IDs: | CCDSCCDS643.1 |
Retinal pigment epithelium-specific protein 65kDa 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Products for RPE65 gene
Catalog | Product Name | Application | Company |
GFS:E00249 | retinal pigment epithelium-specific protein 65kDa; ELISA kit | ELISA | n/a |
GFS:A00249 | retinal pigment epithelium-specific protein 65kDa; Anti | ANTIBODIES | n/a |
GFS:P00249 | retinal pigment epithelium-specific protein 65kDa; Protien | Protien | n/a |