Gene: DHCR24

Alternate names for this Gene: DCE|Nbla03646|SELADIN1|seladin-1

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p32.3

Description of this Gene: 24-dehydrocholesterol reductase

Type of Gene: protein-coding

rs597021 in DHCR24 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs281797256 in DHCR24 gene and Desmosterolosis PMID 21671375 2011 Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

PMID 11519011 2001 Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis.