Aliases for DHCR24 Gene
External Ids for DHCR24 Gene
Previous HGNC Symbols for DHCR24 Gene
Previous GeneCards Identifiers for DHCR24 Gene
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]
GeneCards Summary for DHCR24 Gene
DHCR24 (24-Dehydrocholesterol Reductase) is a Protein Coding gene. Diseases associated with DHCR24 include Desmosterolosis and X-Linked Chondrodysplasia Punctata. Among its related pathways are cholesterol biosynthesis I and Terpenoid backbone biosynthesis. GO annotations related to this gene include enzyme binding and flavin adenine dinucleotide binding.
UniProtKB/Swiss-Prot for DHCR24 Gene
Catalyzes the reduction of the delta-24 double bond of sterol intermediates. Protects cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress. Also protects against amyloid-beta peptide-induced apoptosis.