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

Uniprot Id

Q15738

Target Species

Human

Target Name

NSDHL

Target Full Name

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating

Target Function

Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis. Plays also a role in the regulation of the endocytic trafficking of EGFR.

Target Involvement

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD); CK syndrome (CKS)

Target Subcellular Location

Endoplasmic reticulum membrane; Single-pass membrane protein. Lipid droplet.

Target Protein Families

3-beta-HSD family

Target Tissue Specificity

Brain, heart, liver, lung, kidney, skin and placenta.

Target Synonyms

NSDHL; H105E3; Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating; Protein H105e3

Target Background

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.