RDH12 gene

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)

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

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 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Leber congenital amaurosis 13

From UniProt:

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. [MIM:612712]

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. [MIM:612712]

Cytogenetic Location: 14q24.1, which is the long (q) arm of chromosome 14 at position 24.1

Molecular Location: base pairs 67,701,886 to 67,734,451 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q24.1, which is the long (q) arm of chromosome 14 at position 24.1
  • LCA13
  • RP53
  • SDR7C2