Gene: RPE65 ENSG00000116745

Description

retinal pigment epithelium-specific protein 65kDa [Source:HGNC Symbol;Acc:10294]

Gene Synonyms

LCA2, RP20, mRPE65, rd12, sRPE65

Location

GRCh37:CM000663.1

About this gene

This gene has 1 transcript (splice variant), 3 paralogues and is associated with 10 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000262340.5	RPE65-001	2610	533aa	ENSP00000262340.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS643	C7FEP0 Q16518 Q2EKB8	NM_000329.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,

Summary