DHCR24

This gene encodes a flavin adenine dinucleotide (FAD)-dependent oxidoreductase which catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. The protein contains a leader sequence that directs it to the endoplasmic reticulum membrane. Missense mutations in this gene have been associated with desmosterolosis. Also, reduced expression of the gene occurs in the temporal cortex of Alzheimer disease patients and overexpression has been observed in adrenal gland cancer cells. [provided by RefSeq, Jul 2008]

24-Dehydrocholesterol Reductase

Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:25637936, PubMed:22178193).

In addition to its cholesterol-synthesizing activity, can protect cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress (PubMed:11007892, PubMed:22010141).

Also protects against amyloid-beta peptide-induced apoptosis (PubMed:11007892).

Apoptotic process Source: UniProtKB
Cell cycle arrest Source: UniProtKB
Cholesterol biosynthetic process Source: MGI
Cholesterol biosynthetic process via desmosterol Source: UniProtKB
Cholesterol biosynthetic process via lathosterol Source: Reactome
Negative regulation of apoptotic process Source: UniProtKB
Negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
Regulation of neuron death Source: UniProtKB
Response to oxidative stress Source: UniProtKB
Skin development Source: UniProtKB
Steroid metabolic process Source: GO_Central
Tissue development Source: UniProtKB

Endoplasmic reticulum membrane; Golgi apparatus membrane

Desmosterolosis (DESMOS):
Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.

Lumenal: 23-31
Helical: 32-52
Cytoplasmic: 53-516