NSDHL Antibody – Mouse Monoclonal

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. [provided by RefSeq, Jul 2008]

NSDHL: Defects in NSDHL are the cause of congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD). CHILD is 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. Defects in NSDHL are the cause of CK syndrome (CKS). CKS is a disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus. Belongs to the 3-beta-HSD family.

Protein type: Membrane protein, integral; Lipid Metabolism - steroid biosynthesis; Oxidoreductase; Endoplasmic reticulum; EC 1.1.1.170

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: endoplasmic reticulum membrane; intracellular membrane-bound organelle; endoplasmic reticulum; integral to membrane; lipid particle

Molecular Function: 3-beta-hydroxy-delta5-steroid dehydrogenase activity; sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity

Biological Process: smoothened signaling pathway; hair follicle development; cholesterol biosynthetic process

Disease: Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects; Ck Syndrome