RDH11 gene

retinol dehydrogenase 11 (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 and a short-chain dehydrogenase/reductase. The encoded protein has no steroid dehydrogenase activity. [provided by RefSeq, Nov 2011]

From UniProt:

Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity towards 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected.

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 67,695,793 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
  • ARSDR1
  • CGI82
  • HCBP12
  • MDT1
  • PSDR1
  • RALR1
  • RDJCSS
  • SCALD
  • SDR7C1