24-Dehydrocholesterol reductase

DHCR24
Identifiers
Aliases	DHCR24, DCE, Nbla03646, SELADIN1, seladin-1, 24-dehydrocholesterol reductase
External IDs	OMIM: 606418 MGI: 1922004 HomoloGene: 8850 GeneCards: DHCR24
EC number	1.3.1.72
Gene location (Human)
Chr.	Chromosome 1 (human)
End	54,887,195 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	106,446,310 bp
RNA expression pattern
	Top expressed in
	left adrenal gland; ; right lobe of liver; ; lower lobe of lung; ; vulva; ; nipple; ; pons; ; skin of abdomen; ; gums; ; bronchial epithelial cell; ; corpus callosum;
	Top expressed in
	lip; ; yolk sac; ; intestinal villus; ; left lobe of liver; ; skin of abdomen; ; epidermis; ; hair follicle; ; crypt of lieberkuhn of small intestine; ; sciatic nerve; ; skin of back;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	peptide antigen binding; flavin adenine dinucleotide binding; oxidoreductase activity, acting on CH-OH group of donors; delta24(24-1) sterol reductase activity; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; enzyme binding; oxidoreductase activity; delta24-sterol reductase activity; FAD binding;
Cellular component	cytoplasm; integral component of membrane; cytosol; Golgi apparatus; endoplasmic reticulum membrane; membrane; Golgi membrane; endoplasmic reticulum; cytoskeleton; nucleus;
Biological process	steroid biosynthetic process; protein localization; steroid metabolic process; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; male genitalia development; sterol biosynthetic process; lipid metabolism; negative regulation of apoptotic process; cholesterol metabolic process; response to oxidative stress; regulation of neuron death; tissue development; cholesterol biosynthetic process via lathosterol; response to hormone; sterol metabolic process; membrane organization; Ras protein signal transduction; plasminogen activation; cholesterol biosynthetic process via desmosterol; amyloid precursor protein catabolic process; negative regulation of cell population proliferation; skin development; apoptotic process; cholesterol biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	1718
	74754
	ENSG00000116133
	ENSMUSG00000034926
	Q15392
	Q8VCH6
	NM_014762
	NM_053272
	NP_055577
	NP_444502
	Wikidata
View/Edit Human	View/Edit Mouse

24-Dehydrocholesterol reductase is a protein that in humans is encoded by the 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.

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