Recombinant Human Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating (NSDHL)

1. 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. PMID: 26459993
2. Our findings expand the spectrum of mutations in NSDHL in CHILD syndrome, and indicate that large exon deletions may be not rare. PMID: 26014843
3. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome. PMID: 25900314
4. 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. PMID: 22113624
5. found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS PMID: 21129721
6. The missense mutation of the NSDHL gene is detected in CHILD syndrome. PMID: 19906044
7. Lethality of Nsdhl deficient mouse embryos is rescued by transgenic mice expressing human Nsdhl. PMID: 19880419
8. NAD(P)H steroid dehydrogenase-like protein is localized to lipid droplets PMID: 12837764
9. NSDHL, an enzyme involved in cholesterol synthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. PMID: 14506130
10. microarray analysis of gene expression related to NSDHL sterol dehydrogenase in embryonic fibroblasts PMID: 15805545
11. A novel missense mutation (R199H) in exon 6 of the NSDHL gene was identified in a small subset of sporadic verruciform xanthomas. PMID: 16230564
12. NAD(P) dependent steroid dehydrogenase-like (NSDHL)-shRNA sequences were designed and tested for their effectiveness. PMID: 17498944

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HGNC: 13398

OMIM: 300275

KEGG: hsa:50814

STRING: 9606.ENSP00000359297

UniGene: Hs.57698