cystathionine beta-synthase

Also found in: Acronyms.

cys·ta·thi·o·nine β-syn·thase

(sis'tă-thī'ō-nēn sin'thās),
An enzyme catalyzing the reversible hydrolysis of l-cystathionine to l-serine and l-homocysteine. A step in cysteine biosynthesis and in methionine catabolism. A deficiency of this enzyme leads to vascular thrombosis, dislocation of ocular lens, and abnormal development.
See also: cystathionine γ-synthase.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
Smith et al., "Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): identification and functional analysis of CBS gene mutations in Homocystinuria patients," Journal of Inherited Metabolic Disease, vol.
(2005) Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS.
(2005) Cystathionine beta-synthase is enriched in the brains of Down's patients.
Reaction mechanism and regulation of cystathionine beta-synthase. Biochim Biophys Acta 1647:30-35.
The formation of endogenous H[sub]2S needs cysteine as substrate, and mainly involves three enzymes: cystathionine beta-synthase (CBS), cystathionine gamma-lyase (CSE), and 3-mercaptopyruvate sulfurtransferase (MPST).
Homocystinuria due to cystathionine beta-synthase deficiency-the effects of betaine treatment in pyridoxine-responsive patients.
In homocystinuria caused by cystathionine beta-synthase deficiency, circulating methionine is often increased, whereas homocystinuria resulting from a relative deficiency of the remethylation pathway is characterized by hypomethioninemia [2].