Short-Chain Dehydrogenase/Reductase Family, Member 3

Alternative Names

  • DHRS3
  • SDR Family, Member 3
  • RETSDR1
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OMIM Number

612830

NCBI Gene ID

9249

Uniprot ID

O75911

Length

50,301 bases

No. of Exons

9

No. of isoforms

2

Protein Name

Short-chain dehydrogenase/reductase 3

Molecular Mass

33548 Da

Amino Acid Count

302

Genomic Location

chr1:12,567,910-12,618,210

Gene Map Locus
1p36.21

Description

Predicted to enable NAD-retinol dehydrogenase activity. Predicted to be involved in regulation of retinoic acid receptor signaling pathway and retinoid metabolic process. Predicted to act upstream of or within several processes, including animal organ morphogenesis; negative regulation of retinoic acid receptor signaling pathway; and regulation of ossification. Predicted to be located in endoplasmic reticulum membrane and photoreceptor outer segment membrane. Predicted to be active in lipid droplet. [From Alliance of Genome Resources]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004753.7:c.328G>AJordanNC_000001.11:g.12580534C>TUncertain SignificanceIntellectual Deficiency, Autosomal Recessive, UnclassifiedNM_004753.7:c.328G>A; NP_004744.2:p.Val110Ile200750969
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