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RDH12

RDH12

The information on this page was automatically extracted from online scientific databases.

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 GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProtThis link leads to a site outside Genetics Home Reference.:

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:
UniProtThis link leads to a site outside Genetics Home Reference. 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.[1]This link leads to a site outside Genetics Home Reference. 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.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the RDH12 gene.
  • Leber congenital amaurosis 13[1]This link leads to a site outside Genetics Home Reference.
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.
 Article
Number
Main Topic
[1]

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.

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.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the RDH12 gene or gene products?

  • LCA3
  • LCA13
  • RP53
  • SDR7C2

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?

aldehydes ; catalytic ; congenital ; dehydrogenase ; enzyme ; fundus ; gene ; keratoconus ; metabolism ; nystagmus ; peripheral ; photophobia ; photoreceptor ; pigment ; protein ; retina ; retinoids

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: October 20, 2014