Orphanet: NADP dependent steroid dehydrogenase like
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NSDHL - NAD(P) dependent steroid dehydrogenase-like

  • Synonym(s) : H105e3, SDR31E1, short chain dehydrogenase/reductase family 31E, member 1, XAP104
  • Previous symbols and names : _
  • Type : gene with protein product
  • Chromosomal location : Xq28
  • OMIM: 300275
  • HGNC: 13398
  • UniProtKB: Q15738
  • Genatlas: NSDHL
  • Ensembl: ENSG00000147383
  • IUPHAR-DB: -
  • Reactome: Q15738
  • LOVD: NSDHL

Diseases list

  • Disease-causing germline mutation(s) in CHILD syndrome ORPHA:139
  • Disease-causing germline mutation(s) (loss of function) in CK syndrome ORPHA:251383
  : Assessed

Gene included in a panel of genes performed as part of a diagnostic test


Additional information

Health care resources for this gene

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