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Nsdhl

The meaning of «nsdhl»

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene.[5][6] This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.[7]

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.[7][8]

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it.

Related Searches

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