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; Lipid Metabolism - steroid biosynthesis; Membrane protein, integral; EC 1.3.1.72

Chromosomal Location of Human Ortholog: 1p32.3

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

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

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

Disease: Desmosterolosis