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The protein encoded by NSDHL is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Additionally we are shipping NAD(P) Dependent Steroid Dehydrogenase-Like Antibodies (25) and NAD(P) Dependent Steroid Dehydrogenase-Like Kits (4) and many more products for this protein.
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Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Evaluation of the skin lesions confirmed the diagnosis and led to identification of a heterozygous point mutation in exon 8 of the NSDHL gene.
Our findings expand the spectrum of mutations in NSDHL in CHILD syndrome, and indicate that large exon deletions may be not rare.
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
human NSDHL protein and mouse Nsdhl mRNA were expressed in tissues synthesizing cholesterol and steroids and in all peripheral tissues affected by CHILD or CK syndromes.
found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS
The missense mutation of the NSDHL gene is detected in CHILD syndrome.
Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl.
NAD(P)H (show NQO1 Proteins) steroid dehydrogenase-like protein (show HSDL1 Proteins) is localized to lipid droplets
NSDHL, an enzyme involved in cholesterol synthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.
microarray analysis of gene expression related to NSDHL sterol dehydrogenase in embryonic fibroblasts
The role of NSDHL and cholesterol in postnatal central nervous system development is shown.
A novel SNP in Nsdhl suggests that Nsdhl is the causal gene for the HDL (show HSD11B1 Proteins) level QTL.
This work identifies a critical role for SC4MOL (show MSMO1 Proteins) and NSDHL in the regulation of EGFR (show EGFR Proteins) signaling and endocytic trafficking and suggests novel strategies to increase the potency of EGFR (show EGFR Proteins) antagonists in tumors
While NSDHL-deficient cells in the mosaic Bpa (show DST Proteins)(1H) female are able to survive and differentiate during embryonic development, they are subject to negative selection over the life of the animal.
implicate the hedgehog (show SHH Proteins) signaling pathway in the pathogenesis of the placental defects in NSDHL deficiency
The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this 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. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene.
sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
, protein H105e3
, short chain dehydrogenase/reductase family 31E, member 1
, bare patches