Genomes and Genes
Gene Symbol: Nsdhl
Description: NAD(P) dependent steroid dehydrogenase-like
Alias: sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
- Liu X, Dangel A, Kelley R, Zhao W, Denny P, Botcherby M, et al. The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase. Nat Genet. 1999;22:182-7 pubmed..4) and identified several candidate genes in this interval. Here we report mutations in one of these genes, Nsdhl, encoding an NAD(P)H steroid dehydrogenase-like protein, in two independent Bpa and three independent Str alleles...
- Herman G. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Mol Genet. 2003;12 Spec No 1:R75-88 pubmed..In this review, an overview of the cholesterol biosynthetic pathway will be presented. Clinical features of the human disorders and mouse models of post-squalene cholesterol biosynthesis will then be discussed. ..
- Caldas H, Cunningham D, Wang X, Jiang F, Humphries L, Kelley R, et al. Placental defects are associated with male lethality in bare patches and striated embryos deficient in the NAD(P)H Steroid Dehydrogenase-like (NSDHL) Enzyme. Mol Genet Metab. 2005;84:48-60 pubmedb>NSDHL is a 3beta-hydroxysterol dehydrogenase that is involved in the removal of C-4 methyl groups in one of the later steps of cholesterol biosynthesis...
- Waterham H. Defects of cholesterol biosynthesis. FEBS Lett. 2006;580:5442-9 pubmed..The etiology of the underlying pathophysiology may involve multiple affected processes due to lowered cholesterol and/or the elevated, teratogenic levels of the intermediate sterol precursors. ..
- Phillips R, Kaufman M. Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. II. Investigations into the nature and mechanism of the XO production. Genet Res. 1974;24:27-41 pubmed
- Jiang F, Herman G. Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development. Hum Mol Genet. 2006;15:3293-305 pubmedThe X-linked Nsdhl gene encodes a sterol dehydrogenase involved in cholesterol biosynthesis. Mutations in this gene cause the male lethal phenotypes in human CHILD syndrome and bare patches (Bpa) mice...
- Moessinger C, Kuerschner L, Spandl J, Shevchenko A, Thiele C. Human lysophosphatidylcholine acyltransferases 1 and 2 are located in lipid droplets where they catalyze the formation of phosphatidylcholine. J Biol Chem. 2011;286:21330-9 pubmed publisher..This suggests that LPCAT1 and -2 have, in addition to their known function in specialized cells, a ubiquitous role in LD-associated lipid metabolism. ..