WebSep 4, 2024 · Cystathionine β-synthase (CBS) catalyzes the condensation of serine and homocysteine to water and cystathionine, which is then hydrolyzed to cysteine, α … WebHomocystinuria is caused by problems with the enzyme “cystathionine beta-synthase” (CBS). In people with homocystinuria, CBS is either missing or not working properly. This enzyme’s job is to break down methionine. When the CBS enzyme is not working correctly, methionine and another amino acid, homocystine, build up in the blood and cause …
NM_000071.3 (CBS):c.833T>C (p.Ile278Thr) AND not provided
WebFeb 8, 2024 · Increased CBS expression in CML. In mammals, hydrogen sulfide (H 2 S) is mainly produced by three enzymes including cystathionine β-synthase (CBS), … WebJan 5, 2024 · Cystathionine beta-synthase played essential roles in the central nervous system function and cysteine biosynthesis. Transfection of endothelial cells with CBS gene construct reduced homocysteine accumulation in high methionine-fed cells. There was good CBS activity in the liver and cerebellum of the mouse but no activity in the retina. philippe muck gmbh
Entry - *613381 - CYSTATHIONINE BETA-SYNTHASE; CBS
Cystathionine-β-synthase, also known as CBS, is an enzyme (EC 4.2.1.22) that in humans is encoded by the CBS gene. It catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine: L-serine + L-homocysteine L-cystathionine + H2O CBS uses the cofactor pyridoxal-phosphate (PLP) and can be allosterically regul… WebMar 29, 2024 · The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine … WebCystathionine beta-synthase (CBS) is a key regulator of homocysteine metabolism. Although eukaryotic CBS have a similar domain architecture with a catalytic core and a C-terminal Bateman module, their regulation varies widely across phyla. In human CBS (HsCBS), the C-terminus has an autoinhibitory effect by acting as a cap that avoids the … philippe murray pietsch