HSD3B7, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

HSD3B7, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

• This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

• Gene Synonyms (3 beta-hydroxysteroid dehydrogenase type 7, 3 beta-hydroxy-delta 5-C27-steroid oxidoreductase, 3 beta-hydroxysteroid dehydrogenase type VII, 3-beta-HSD VII, 3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase, C(27)-3BETA-HSD, c(27) 3-beta-HSD, cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase, short chain dehydrogenase/reductase family 11E, member 3, CBAS1, PFIC4, SDR11E3,)
• NCBI Gene ID: 80270
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q9H2F3
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 interacts with:

• alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
  ankyrin repeat and SOCS box containing 12
  chromosome 22 open reading frame 39
  cysteine rich tail 1
  hydroxysteroid 17-beta dehydrogenase 13
  keratin 40
  keratin associated protein 10-1
  keratin associated protein 10-3
  keratin associated protein 10-7
  keratin associated protein 10-8
  keratin associated protein 10-9
  keratin associated protein 1-3
  keratin associated protein 13-3
  keratin associated protein 19-2
  keratin associated protein 4-2
  keratinocyte proline rich protein
  late cornified envelope 4A
  leucine rich repeat and Ig domain containing 1
  meiotic double-stranded break formation protein 4
  notch 2 N-terminal like A
  receptor accessory protein 4
  scavenger receptor cysteine rich family member with 4 domains
  transmembrane protein 31
  tripartite motif containing 42
  yippee like 3
  zinc finger and BTB domain containing 42

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.