EC Number   |
General Information |
Reference |
|---|
    4.2.1.22 | evolution |
cystathionine beta-synthase belongs to the fold II family of pyridoxal 5'-phosphate enzymes |
714248 |
| 4.2.1.22 | malfunction |
CBS deficiency due to missense mutations in the CBS gene is the most common cause of inherited homocystinuria, a treatable multisystemic disease affecting to various extent vasculature, connective tissues, and central nervous system |
714179 |
| 4.2.1.22 | malfunction |
cystathionine beta-synthase deficiency is a well-known genetic disease affecting the first step in the conversion of homocysteine to cysteine and ultimately to inorganic sulfur. The disease occurs in a mild and a severe form, phenotypes, overview. Cystathionine beta-synthase activities in wild-type individuals, and in hetero-, and homozygote cystathionine beta-synthase mutants, overview |
715809 |
| 4.2.1.22 | malfunction |
depletion of cystathionine beta synthase induces premature senescence in human endothelial cells, induces mild mitochondrial dysfunction and increases the sensitivity of endothelial cells to homocysteine, a known inducer of endothelial cell senescence and an established risk factor for vascular disease |
728933 |
| 4.2.1.22 | malfunction |
hemizygous (+/-) CBS knockout mice are analysed: Significantly higher plasma total homocysteine concentrations occurr in the CBS (+/-) mice than in wild-type cohorts. Female mice of both genotypes have significantly higher plasma total homocysteine concentrations and lower relative CBS mRNA levels than did male mice. During vitamin B6 deficiency, plasma total homocysteine concentrations are significantly elevated. CBS (+/-) mice have a lower plasma cholesterol concentration, and during a taurine- and cysteine-deficient diet, CBS mRNA levels in CBS (+/-) mice are reduced only 13% |
706002 |
| 4.2.1.22 | malfunction |
misfolding of mutant enzymes may play an important role in the pathogenesis of cystathionine beta-synthase deficiency, identification of mutant variants in patients with homocystinuria due to CBS deficiency and phenotypes, the topology of mutations predicts in part the behavior of mutant CBS, pathogenic mechanism in CBS deficiency, molecular dynamics simulations, overview |
715150 |
| 4.2.1.22 | malfunction |
the effects of endogenous elevation of homocysteine on the retina using the cystathionine beta-synthase mutant mouse is determined. Increased retinal homocysteine alters inner and outer retinal layers in cbs homozygous mice and older cbs heterozygous mice, and it primarily affects the cells of the ganglion cell layer in younger heterozygous mice. Elevated retinal homocysteine alters expression of genes involved in endoplasmic reticular stress, N-methyl-D-aspartate (NMDA) receptor activation, cell cycle, and apoptosis |
704108 |
| 4.2.1.22 | metabolism |
binding of S-adenosylhomocysteine and sinefungin lead to stabilization of the regulatory domains without activation of CBS. Binding of these two ligands also affects the enzyme proteolysis |
747206 |
| 4.2.1.22 | metabolism |
CBS is a key enzyme in the trans-sulfuration pathway and catalyzes the condensation of serine with homocysteine to produce cystathionine |
715172 |
| 4.2.1.22 | metabolism |
CBS is involved in the cysteine pathway of bacteria and plants, overview |
714071 |
