Cystathionine beta-synthase
Cystathionine beta-synthase (CBS) is an enzyme that in humans is encoded by the CBS gene. CBS catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine.
Function[edit | edit source]
CBS converts homocysteine into cystathionine, the first step in the transsulfuration pathway. This pathway leads to the biosynthesis of cysteine, an amino acid that is a crucial part of many biological structures and processes.
Structure[edit | edit source]
The CBS enzyme is a tetramer, meaning it is composed of four subunits. Each subunit contains a pyridoxal phosphate (PLP) binding domain and a heme binding domain. The PLP binding domain is responsible for the enzyme's catalytic activity, while the heme binding domain regulates this activity.
Clinical significance[edit | edit source]
Mutations in the CBS gene can lead to cystathioninuria and homocystinuria, both of which are metabolic disorders that can have serious health consequences.
See also[edit | edit source]
References[edit | edit source]
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