The NSDHL gene (NSDHL stands for: NAD(P) Dependent Steroid Dehydrogenase-Like) is a protein coding gene located on chromosome Xq28. Associated pathways include the cholesterol biosynthesis superpathway and cholesterol metabolism, and an important paralog of this gene is SDR42E1.
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NSDHL gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
The protein encoded by this gene, a 3beta-hydroxysteroid dehydrogenase, catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4-methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis. It also plays a role in the regulation of endocytic trafficking of EGFR.
PathophysiologyThis section has been translated automatically.
3beta-hydroxysteroid dehydrogenase is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, an X-linked dominant disorder of lipid metabolism with impaired cholesterol biosynthesis, which is usually fatal in males (König A et al. 2000).
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missense variant in the NSDHL gene can also cause inflammatory linear verrucous epidermal nevi in dogs (Leuthard F et al. 2019).
LiteratureThis section has been translated automatically.
- Caldas H et al. (2005) 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 84:48-60.
Christen M et al. (2020) NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi. Genes (Basel) 11:1297.
- Hettiarachchi D et al. (2020) Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report. BMC Med Genet 21:164.
- König A et al. (2000) Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 90:339-346.
- Maceda EBG et al. (2020) Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome. BMJ Case Rep 13:e236859.
- Zhuang J et al. (2023) Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole-exome sequencing: A rare case report and literature review. Mol Genet Genomic Med 11:e2121.