GeneID: 221


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

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


Number of entries/variants: 0


Sequence Viewer

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Publications / Origin

  1. 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 PubMed
  2. 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 PubMed
Created on 2017-02-28 15:10:58, Last reviewed on (Show full history)

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