NSDHL
From Infogalactic: the planetary knowledge core
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene.[1][2] This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.[3]
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.[3][4]
References
Further reading
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External links
- GeneReviews/NCBI/NIH/UW entry on NSDHL related disorders including CHILD syndrome CK syndrome
- Nsdhl protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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