XB-GENEPAGE-1008840
???displayGene.symbol???:
hsd3b7
???displayGene.name???:
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
???displayGene.synonyms???
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Nomenclature history )
???displayGene.geneFunction???
C-3 sterol dehydrogenase/3-beta-hydroxysteroid dehydrogenase and related dehydrogenases
AI Protein Function
:
hsd3b7 encodes a 3β‑hydroxysteroid dehydrogenase type 7 enzyme that catalyzes the oxidation of 7α‑hydroxycholesterol to 7α‑hydroxy‑4‑cholesten‑3‑one, a key step in bile acid biosynthesis. The protein i...[+]
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Diseases:
Disease Ontology:
congenital bile acid synthesis defect 1
MIM:
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1; CBAS1
External Links:
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