Gene

rpe65a

ID
ZDB-GENE-040426-1717
Name
retinoid isomerohydrolase RPE65 a
Symbol
rpe65a Nomenclature History
Previous Names
  • rpepa (1)
  • zgc:73213
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to have all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity; retinal isomerase activity; and retinol isomerase activity. Predicted to be involved in retinal metabolic process and zeaxanthin biosynthetic process. Predicted to localize to endoplasmic reticulum membrane. Is expressed in head and visual system. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; and retinitis pigmentosa 20. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65).
Genome Resources
Note
None
Expression
All Expression Data
16 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With rpe65a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Leber congenital amaurosis 2 Alliance Leber congenital amaurosis 2 204100
retinitis pigmentosa 20 Alliance Retinitis pigmentosa 20 613794
Retinitis pigmentosa 87 with choroidal involvement 618697
Associated With rpe65a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein Length
UniProtKB:Q6PBW5 531
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations