Hs06596177_cn

• Gene Symbol: RPE65
• Assay Reference Genome Location: Chr.1:68445282 on build GRCh38
• Cytoband: 1p31.3

Target Gene Details

• Entrez Gene ID: 6121
• Gene Name: RPE65, retinoid isomerohydrolase
• Gene Aliases: BCO3, LCA2, RP20, mRPE65, rd12, sRPE65
• Location: Chr.1:68428822-68450322 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPE65	NM_000329.2			NP_000320.1
	XM_017002027.1			XP_016857516.1
	AK289925.1
	BC075035.2			AAH75035.1
	BC075036.2			AAH75036.1
	U18991.1			AAA99012.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv546450	Chr.1:68405344 - 68466239 on Build GRCh38	Gain	RPE65

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

oxygenase

Gene Ontology Categories:

Process(es)

retinoid metabolic process
retina homeostasis
neural retina development
vitamin A metabolic process
regulation of rhodopsin gene expression
visual perception
circadian rhythm
insulin receptor signaling pathway
retinol metabolic process
retinal metabolic process
detection of light stimulus involved in visual perception
oxidation-reduction process
retina morphogenesis in camera-type eye
cellular response to electrical stimulus

Function(s)

phosphatidylserine binding
retinal isomerase activity
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
phosphatidylcholine binding
metal ion binding
all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity
all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity
cardiolipin binding