What is the official name of the RDH12 gene?
The official name of this gene is “retinol dehydrogenase 12 (all-trans/9-cis/11-cis).”
RDH12 is the gene's official symbol. The RDH12 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the RDH12 gene?
- From NCBI Gene:
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 3 (LCA3). [provided by RefSeq, Jul 2008]
- From UniProt:
Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments.
How are changes in the RDH12 gene related to health conditions?
- Genetics Home Reference provides information about these conditions associated with changes in the RDH12 gene:
- UniProt provides the following information about the RDH12 gene's known or predicted involvement in human disease.
Leber congenital amaurosis 13 (LCA13): A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by mutations affecting the gene represented in this entry.
Retinitis pigmentosa 53 (RP53): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by mutations affecting the gene represented in this entry.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the RDH12 gene.
- Leber congenital amaurosis 13
- UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the RDH12 gene located?
Cytogenetic Location: 14q24.1
Molecular Location on chromosome 14: base pairs 67,701,885 to 67,734,450
The RDH12 gene is located on the long (q) arm of chromosome 14 at position 24.1.
More precisely, the RDH12 gene is located from base pair 67,701,885 to base pair 67,734,450 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about RDH12?
You and your healthcare professional may find the following resources about RDH12 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the RDH12 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding RDH12?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.