CBS wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CBS wild-type allele is located in the vicinity of 21q22.3 and is approximately 24 kb in length. This allele, which encodes cystathionine beta-synthase protein, is involved in the detoxification of homocysteine and the synthesis of cysteine. Mutation of the gene is associated with cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria and an increase risk of thrombosis.

**Synonyms:** - Cystathionine-Beta-Synthase wt Allele - HIP4