full name
RPE65, retinoid isomerohydrolase

synonyms
LCA2, mRPE65, rd12, RP20, sRPE65, RPE65, ENSG00000116745

HGNC
HGNC:10294

Entrez Gene
Gene:6121

ENSEMBL
ENSG00000116745

location
chr: 1
start: 68894507
stop: 68915642
strand: -

OMIM
OMIM:180069: RPE65 (Autosomal recessive inheritance)
OMIM:204100: Leber congenital amaurosis 2
OMIM:613794: Retinitis pigmentosa 20

transcripts
NM_000329.2

pathways
Retinol metabolism [NCBI:83020] [KEGG:hsa00830] [PUBMED:17893666] [PUBMED:16968212] [PUBMED:16688755] [PUBMED:16428379] [PUBMED:17618621] [PUBMED:11093772]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
The canonical retinoid cycle in rods (twilight vision) [NCBI:1269625] [REACTOME:R-HSA-2453902] [PUBMED:20188572] [PUBMED:16688755] [PUBMED:22074927] [PUBMED:21350678]
Visual phototransduction [NCBI:1269623] [REACTOME:R-HSA-2187338] [PUBMED:15384919] [PUBMED:22074928] [PUBMED:20188572] [PUBMED:21111842] [PUBMED:16688755] [PUBMED:8382952] [PUBMED:22658984] [PUBMED:20430952] [PUBMED:21350678] [PUBMED:22074927] [PUBMED:16011460] [PUBMED:11340090]
Visual signal transduction: Cones [NCBI:137926] [Pathway Interaction Database:cone_pathway] [PUBMED:12732716] [PUBMED:10407028] [PUBMED:16787417] [PUBMED:12600216] [PUBMED:15186777] [PUBMED:15790924] [PUBMED:9571173] [PUBMED:11601986] [PUBMED:12486395] [PUBMED:15504722] [PUBMED:11683629] [PUBMED:12853434] [PUBMED:15488178]
Visual signal transduction: Rods [NCBI:138074] [Pathway Interaction Database:rhodopsin_pathway] [PUBMED:9169442] [PUBMED:7781061] [PUBMED:9571173] [PUBMED:11683629] [PUBMED:3014340] [PUBMED:11601986] [PUBMED:15488178] [PUBMED:15186777]
the visual cycle I (vertebrates) [NCBI:545294] [BIOCYC:HUMAN_PWY-6861]