GeneID: 221
Names
| Common Name: | CBS | Type: | Gene |
|---|---|---|---|
| Chromosome: | 21 (NC_000021.9) | Locus: | NG_008938.1 (CBS) |
| HUGO Symbol: | CBS | Full Name: | cystathionine-beta-synthase |
| Exons: | 17 | Introns: | 16 |
Description:
This gene encodes cystathionine beta-synthase, which catalyzes the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Elevated levels of homocysteine have been identified as a risk factor for increased oxidative stress in sickle cell disease, as well as vascular complications.
Synonyms: HIP4
Comments:
N/A
Number of entries/variants: 0
Publications / Origin
- Alves Jacob M, da Cunha Bastos C, Regina Bonini-Domingos C, The 844ins68 cystathionine beta-synthase and C677T MTHFR gene polymorphism and the vaso-occlusive event risk in sickle cell disease., Arch Med Sci , 7(1), 97-101, 2011
- da Silva DG, Belini Junior E, de Souza Torres L, Okumura JV, Marcel Barberino W, Garcia de Oliveira R, Urbinatti Teixeira V, Lopes de Castro Lobo C, Alves de Almeida E, Bonini-Domingos CR, Impact of genetic polymorphisms in key enzymes of homocysteine metabolism on the pathophysiology of sickle cell anemia., Free Radic. Biol. Med. , 106(0), 53-61, 2017