RDH12 Gene Summary [Human]
The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
Details
| Type | Protein Coding |
| Official Symbol | RDH12 |
| Official Name | retinol dehydrogenase 12 [Source:HGNC Symbol;Acc:HGNC:19977] |
| Ensembl ID | ENSG00000139988 |
| Bio databases IDs | |
| Aliases | retinol dehydrogenase 12, short chain dehydrogenase/reductase family 7C, member 2 |
| Synonyms | LCA13, LCA3, retinol dehydrogenase 12, RP53, SDR7C2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RDH12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- NADP-retinol dehydrogenase
- Rossmann-fold NAD(P)(+)-binding proteins
- retinol dehydrogenase
- enzyme
- protein binding
- short chain dehydrogenase
Pathways
Biological processes and signaling networks where the RDH12 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinitis pigmentosa
- Leber congenital amaurosis type 13
- Leber congenital amaurosis type 1
- retinal dystrophy
- cone-rod dystrophy
- RDH12-related recessive retinopathy
- spinocerebellar ataxia type 7
- Parkinson disease
- retinitis pigmentosa type 53
- Huntington disease
regulates
- retinaldehyde
- retinoid
- tretinoin
- retinol
- N-retinylidene-N-retinylethanolamine
role in cell
- maintenance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- photoreceptor inner segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RDH12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retinoid metabolic process
- photoreceptor cell maintenance
- retinol metabolic process
- visual perception
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- photoreceptor inner segment membrane
- photoreceptor inner segment
Molecular Function
What the gene product does at the molecular level
- protein binding
- retinol dehydrogenase activity
- NADP-retinol dehydrogenase activity