Entrez 50814 | Ensembl ENSG00000147383 | |
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Aliases NSDHL, H105E3, SDR31E1, XAP104, NAD(P) dependent steroid dehydrogenase-like External IDs MGI: 1099438 HomoloGene: 5951 GeneCards: NSDHL | ||
Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene. This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.
Clinical significance
Mutations in the NSDHL gene are associated with CHILD syndrome which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males.
References
NSDHL Wikipedia(Text) CC BY-SA