XB-GENEPAGE-1004922
???displayGene.symbol???:
nsdhl
???displayGene.name???:
NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL
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Nomenclature history )
???displayGene.geneFunction???
C-3 sterol dehydrogenase/3-beta-hydroxysteroid dehydrogenase and related dehydrogenases
AI Protein Function
:
nsdhl encodes a sterol dehydrogenase that participates in the cholesterol biosynthetic pathway; the protein is a membrane‑bound enzyme localized to the endoplasmic reticulum; expression has been report...[+]
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Diseases:
Disease Ontology:
CHILD syndrome
MIM:
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
External Links:
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