Gene

rpe65b

ID
ZDB-GENE-050410-16
Name
retinoid isomerohydrolase RPE65 b
Symbol
rpe65b Nomenclature History
Previous Names
  • rpepb (1)
  • 13cIMH (1)
  • si:ch211-198n5.5
  • wu:fc74c09
  • zgc:110538
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to enable all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity and retinol isomerase activity. Predicted to be involved in retinoid metabolic process and zeaxanthin biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Is expressed in ectoderm; mandibular arch skeleton; nervous system; neural crest cell; and pectoral fin. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; retinitis pigmentosa 20; and retinitis pigmentosa 87. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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 rpe65b 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 Alliance Retinitis pigmentosa 87 with choroidal involvement 618697
Associated With rpe65b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR004294 Carotenoid oxygenase
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations