NSDHL

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]

Full Name

NAD(P) dependent steroid dehydrogenase-like

Function

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

Biological Process

Cholesterol biosynthetic processTAS:Reactome
Cholesterol metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Hair follicle developmentIEA:Ensembl
Labyrinthine layer blood vessel developmentIEA:Ensembl
Smoothened signaling pathwayIEA:Ensembl

Cellular Location

Endoplasmic reticulum membrane
Lipid droplet
Trafficking through the Golgi is necessary for ER membrane localization.

Involvement in disease

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD):
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.
CK syndrome (CKS):
An X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus.

Topology

Helical: 298-318