Gene

rdh12

ID
ZDB-GENE-040718-9
Name
retinol dehydrogenase 12
Symbol
rdh12 Nomenclature History
Previous Names
  • wu:fj43a10
  • zgc:92430
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Is expressed in several structures, including brain; eye; gut; heart; and skeletal muscle cell. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 13 and Leber hereditary optic neuropathy. Orthologous to human RDH11 (retinol dehydrogenase 11) and RDH12 (retinol dehydrogenase 12).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression 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 rdh12 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Leber congenital amaurosis 13 Alliance Leber congenital amaurosis 13 612712
?Retinal dystrophy, juvenile cataracts, and short stature syndrome 616108
Associated With rdh12 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR002347 Short-chain dehydrogenase/reductase SDR
Homologous_superfamily IPR036291 NAD(P)-binding domain superfamily
Domain Details Per Protein
Protein Length NAD(P)-binding domain superfamily Short-chain dehydrogenase/reductase SDR
UniProtKB:B8A539 320
UniProtKB:Q6DG78 319
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