24-dehydrocholesterol reductase

DHCR24
Identifiers
Aliases	DHCR24, DCE, Nbla03646, SELADIN1, seladin-1, 24-dehydrocholesterol reductase
External IDs	MGI: 1922004 HomoloGene: 8850 GeneCards: DHCR24
EC number	1.3.1.72
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 • catalytic activity • enzyme binding • oxidoreductase activity • delta24-sterol reductase activity 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 metabolic process • negative regulation of apoptotic process • cholesterol metabolic process • response to oxidative stress • cell cycle arrest • 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 • oxidation-reduction process • cholesterol biosynthetic process via desmosterol • amyloid precursor protein catabolic process • negative regulation of cell proliferation • skin development • apoptotic process • cholesterol biosynthetic process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1718	74754
Ensembl	ENSG00000116133	ENSMUSG00000034926
UniProt	Q15392	Q8VCH6
RefSeq (mRNA)	NM_014762	NM_053272
RefSeq (protein)	NP_055577	NP_444502
Location (UCSC)	Chr 1: 54.85 – 54.89 Mb	Chr 4: 106.56 – 106.59 Mb
PubMed search

1718

74754

ENSG00000116133

ENSMUSG00000034926

Q15392

Q8VCH6

NM_014762

NM_053272

NP_055577

NP_444502

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.

Model organisms have been used in the study of DHCR24 function. A conditional knockout mouse line, called Dhcr24^{tm1a(EUCOMM)Wtsi} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.

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Wikipedia