RPE65

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Retinal pigment epithelium-specific protein 65kDa
Protein RPE65 PDB 3FSN.png
Rendering based on PDB 3FSN.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols RPE65 ; BCO3; LCA2; RP20; mRPE65; rd12; sRPE65
External IDs OMIM180069 MGI98001 HomoloGene20108 GeneCards: RPE65 Gene
EC number 3.1.1.64
RNA expression pattern
PBB GE RPE65 207107 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6121 19892
Ensembl ENSG00000116745 ENSMUSG00000028174
UniProt Q16518 Q91ZQ5
RefSeq (mRNA) NM_000329 NM_029987
RefSeq (protein) NP_000320 NP_084263
Location (UCSC) Chr 1:
68.89 – 68.92 Mb
Chr 3:
159.6 – 159.62 Mb
PubMed search [1] [2]

Retinal pigment epithelium-specific 65 kDa protein is a protein that in humans is encoded by the RPE65 gene.[1][2]

Function[edit]

The retinal pigment epithelium-specific 65 kDa protein is located in the retinal pigment epithelium and is involved in the conversion of all-trans retinol to 11-cis retinal during phototransduction, which is then used in visual pigment regeneration in photoreceptor cells.

Clinical significance[edit]

Mutations in this gene have been associated with Leber's congenital amaurosis type 2 (LCA2) and retinitis pigmentosa.[2][3]

See also[edit]

References[edit]

  1. ^ Hamel CP, Tsilou E, Pfeffer BA, Hooks JJ, Detrick B, Redmond TM (Aug 1993). "Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro". J Biol Chem 268 (21): 15751–7. PMID 8340400. 
  2. ^ a b "Entrez Gene: RPE65 retinal pigment epithelium-specific protein 65kDa". 
  3. ^ Bowne, SJ; Humphries, MM, Sullivan, LS, Kenna, PF, Tam, LC, Kiang, AS, Campbell, M, Weinstock, GM, Koboldt, DC, Ding, L, Fulton, RS, Sodergren, EJ, Allman, D, Millington-Ward, S, Palfi, A, McKee, A, Blanton, SH, Slifer, S, Konidari, I, Farrar, GJ, Daiger, SP, Humphries, P (Jun 8, 2011). "A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement". European Journal of Human Genetics : EJHG 19 (10): 1074–81. doi:10.1038/ejhg.2011.86. PMC 3190249. PMID 21654732. 

External links[edit]

Further reading[edit]