NSDHL
Function
Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By similarity).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 4/6.
Sequence Similarities
Belongs to the 3-beta-HSD family.
Tissue Specificity
Brain, heart, liver, lung, kidney, skin and placenta.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass membrane protein
- Lipid droplet
- Trafficking through the Golgi is necessary for ER membrane localization.
Alternative names
H105E3, NSDHL, Protein H105e3