Short Chain Dehydrogenase/Reductase Family 9C, Member 7

Alternative Names

  • SDR9C7
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OMIM Number

609769

NCBI Gene ID

121214

Uniprot ID

Q8NEX9

Length

11,276 bases

No. of Exons

4

No. of isoforms

1

Protein Name

Short Chain Dehydrogenase/Reductase Family 9C, Member 7

Molecular Mass

35263 Da

Amino Acid Count

313

Genomic Location

chr12:56,923,133-56,934,408

Gene Map Locus
12q13.3

Description

The SDR9C7  gene encodes a protein with similarity to the short-chain dehydrogenase/reductase (SDR) family. However, the encoded protein does not appear to have steroid dehydrogenase activity. It is weakly involved in the conversion of all-trans-retinal to all-trans-retinol in the presence of the cofactor NADH.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_148897.2:c.214C>TLebanonchr12:56934048PathogenicPathogenicIchthyosis, Congenital, Autosomal Recessive 13 NM_148897.2:c.214C>T; NP_683695.1:p.Arg72Trp530109812430712
NM_148897.2:c.599T>CLebanonchr12:56929515PathogenicPathogenicIchthyosis, Congenital, Autosomal Recessive 13 NM_148897.2:c.599T>C; NP_683695.1:p.Ile200Thr770729222430711
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