Delta (24)-Sterol Reductase (DHCR24) Antibody – Rabbit Polyclonal

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]

Diminuto: the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24), a member of the flavin adenine dinucleotide (FAD)-dependent oxidoreductases, catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis. Highly expressed in brain and adrenal gland with moderate expression in liver, lung, spleen, prostate and spinal cord. Low expression in heart, uterus and prostate. Undetectable in blood cells. Overexpressed in the adenoma tissue of patients with Cushing's syndrome. May be involved in the molecular events of adrenocortical tumorigenesis by facilitating steroid synthesis and cell growth.

Protein type: Oxidoreductase; EC 1.3.1.72; Membrane protein, integral; Lipid Metabolism - steroid biosynthesis

Chromosomal Location of Human Ortholog: 1p32.3

Cellular Component: cytoskeleton; cytosol; endoplasmic reticulum; endoplasmic reticulum membrane; Golgi membrane; integral to membrane; membrane; nucleus

Molecular Function: delta24(24-1) sterol reductase activity; delta24-sterol reductase activity; enzyme binding; FAD binding; oxidoreductase activity, acting on CH-OH group of donors; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor; peptide antigen binding

Biological Process: amyloid precursor protein catabolic process; apoptosis; cell cycle arrest; cholesterol biosynthetic process; cholesterol biosynthetic process via desmosterol; cholesterol biosynthetic process via lathosterol; male genitalia development; negative regulation of apoptosis; negative regulation of caspase activity; negative regulation of cell proliferation; plasminogen activation; protein localization; Ras protein signal transduction; response to hormone stimulus; response to oxidative stress; skin development; tissue development

Disease: Desmosterolosis