NSDHL

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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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

  1. Ohashi M, Mizushima N, Kabeya Y, Yoshimori T (Sep 2003). "Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets". J Biol Chem. 278 (38): 36819–29. doi:10.1074/jbc.M301408200. PMID 12837764.
  2. Persson B, Kallberg Y, Bray JE, Bruford E, Dellaporta SL, Favia AD, Duarte RG, Jornvall H, Kavanagh KL, Kedishvili N, Kisiela M, Maser E, Mindnich R, Orchard S, Penning TM, Thornton JM, Adamski J, Oppermann U (Feb 2009). "The SDR (Short-Chain Dehydrogenase/Reductase and Related Enzymes) Nomenclature Initiative". Chem Biol Interact. 178 (1–3): 94–8. doi:10.1016/j.cbi.2008.10.040. PMC 2896744. PMID 19027726.
  3. 3.0 3.1 "Entrez Gene: NSDHL NAD(P) dependent steroid dehydrogenase-like".
  4. Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH (Apr 2000). "Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome". Am J Med Genet. 90 (4): 339–46. doi:10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5. PMID 10710235.

Further reading

External links



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