24-dehydrocholesterol reductase

Symbol

DHCR24 (may also be known as: None)

Organism

Human

Description

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]

Orthologs

SymbolSpecies
F52H2.6 Caenorhabditis elegans
dhcr24 Danio rerio
Dhcr24 Mus musculus
Dhcr24 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0006695 cholesterol biosynthetic process biological_process
GO:0006915 apoptotic process biological_process
GO:0006916 anti-apoptosis biological_process
GO:0006979 response to oxidative stress biological_process
GO:0007050 cell cycle arrest biological_process
GO:0007265 Ras protein signal transduction biological_process
GO:0008104 protein localization biological_process
GO:0008285 negative regulation of cell proliferation biological_process
GO:0009888 tissue development biological_process
GO:0016044 cellular membrane organization biological_process
GO:0030539 male genitalia development biological_process
GO:0031639 plasminogen activation biological_process
GO:0042987 amyloid precursor protein catabolic process biological_process
GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process biological_process
GO:0043526 neuroprotection biological_process
GO:0043588 skin development biological_process
GO:0044281 small molecule metabolic process biological_process
GO:0000139 Golgi membrane cellular_component
GO:0005624 membrane fraction cellular_component
GO:0005634 nucleus cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005783 endoplasmic reticulum cellular_component
GO:0005789 endoplasmic reticulum membrane cellular_component
GO:0005794 Golgi apparatus cellular_component
GO:0005829 cytosol cellular_component
GO:0005856 cytoskeleton cellular_component
GO:0016020 membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0008762 UDP-N-acetylmuramate dehydrogenase activity molecular_function
GO:0016614 oxidoreductase activity, acting on CH-OH group of donors molecular_function
GO:0016628 oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor molecular_function
GO:0019899 enzyme binding molecular_function
GO:0042605 peptide antigen binding molecular_function
GO:0050614 delta24-sterol reductase activity molecular_function
GO:0050660 flavin adenine dinucleotide binding molecular_function