MGP Database

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MGP005075

UniProt Annotations

Entry Information
Gene NameNAD(P) dependent steroid dehydrogenase-like
Protein EntryNSDHL_HUMAN
UniProt IDQ15738
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityA 3-beta-hydroxysteroid-4-alpha-carboxylate + NAD(P)(+) = a 3-oxosteroid + CO(2) + NAD(P)H.
DiseaseCK syndrome (CKS) [MIM:300831]: A disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. {ECO:0000269|PubMed:21129721}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCongenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) [MIM:308050]: An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. {ECO:0000269|PubMed:10710235, ECO:0000269|PubMed:11907515}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionInvolved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. {ECO:0000269|PubMed:14506130}.
PathwaySteroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6.
SimilarityBelongs to the 3-beta-HSD family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:14506130}; Single-pass membrane protein {ECO:0000269|PubMed:14506130}. Lipid droplet {ECO:0000269|PubMed:14506130}. Note=Trafficking through the Golgi is necessary for ER membrane localization.
Tissue SpecificityBrain, heart, liver, lung, kidney, skin and placenta.
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