Gene Symbol Report 
RPE65
| Approved Symbol |
RPE65 |
|---|---|
| Approved Name |
retinal pigment epithelium-specific protein 65kDa |
| HGNC ID |
HGNC:10294 |
| Previous Symbols & Names |
"retinal pigment epithelium-specific protein (65kD)", RP20 |
| Synonyms |
"all-trans-retinyl-palmitate hydrolase", LCA2, rd12, "retinol isomerase" |
| Locus Type |
gene with protein product |
| Chromosomal Location |
1p31 |
| SPECIALIST DATABASE |
EC:5.2.1.7 C |
|
|---|---|---|
| HOMOLOGS |
MGI:98001 C Mouse Symbol: Rpe65 RGD:621396 D Rat Symbol: Rpe65 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:U18991 EMBL-Bank DDBJ C RefSeq:NM_000329 C CCDS:CCDS643.1 C Vega:OTTHUMG00000009208 C |
|
| GENE RESOURCES |
Entrez Gene:6121 C Ensembl:ENSG00000116745 C UCSC:uc001dei.1 D Vega:OTTHUMG00000009208 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:Q16518 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Mutations of the RPE65 Gene C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
