24-Dehydrocholesterol reductase

24-Dehydrocholesterol reductase is a protein that in humans is encoded by the DHCR24 gene.^[5][6]

DHCR24
Identifiers
Aliases	DHCR24, DCE, Nbla03646, SELADIN1, seladin-1, 24-dehydrocholesterol reductase
External IDs	OMIM: 606418; MGI: 1922004; HomoloGene: 8850; GeneCards: DHCR24; OMA:DHCR24 - orthologs
EC number	1.3.1.72
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p32.3 Start 54,849,627 bp[1] End 54,887,195 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4|4 C7 Start 106,418,235 bp[2] End 106,446,310 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right adrenal cortex left adrenal gland left adrenal cortex C1 segment right lobe of liver lower lobe of lung skin of thigh skin of arm vulva nipple Top expressed in lip skin of external ear gastrula yolk sac intestinal villus left lobe of liver skin of abdomen tail of embryo epidermis hair follicle More reference expression data BioGPS 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 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: 106.42 – 106.45 Mb PubMed search [3] [4]
Wikidata
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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.^[6]

See also

• Steroidogenic enzyme