RDH11 gene

retinol dehydrogenase 11

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 and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011]

From UniProt:

Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol, and to a lesser extent on 13-cis-retinol (PubMed:12226107, PubMed:12036956, PubMed:29410696). Exhibits a low reductive activity towards unsaturated medium-chain aldehydes such as cis -6-nonenal and no activity toward nonanal or 4-hydroxy-nonenal (PubMed:15865448). Has no dehydrogenase activity towards steroid (PubMed:12226107, PubMed:12036956).

From NCBI Gene:

  • Retinal dystrophy, juvenile cataracts, and short stature syndrome

From UniProt:

Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS): A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium. [MIM:616108]

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

Molecular Location: base pairs 67,676,800 to 67,695,764 on chromosome 14 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 14q24.1, which is the long (q) arm of chromosome 14 at position 24.1
  • ARSDR1
  • CGI82
  • HCBP12
  • MDT1
  • PSDR1
  • RALR1
  • RDJCSS
  • SCALD
  • SDR7C1