CBS Recombinant Rabbit Monoclonal Antibody [JE40-99]

Function

Strongly expressed in human liver and pancreas, with weaker expression in heart and brain, the cytoplasmic protein cystathionine b-synthase (CBS) operates in the first step of homocysteine transulfuration. CBS, which belongs to the cysteine synthase/cystathionine b-synthase family of proteins, catalyzes the formation of cystathionine from the thrombogenic amino acid homocysteine using pyridoxal phosphate cofactor. Allosteric activation by adenosyl-methionine regulates CBS activity. Deficiencies in CBS are assoc-iated with homocystinuria, a recessively inherited error in sulfur amino acid metabolism that affects many organs and tissues. Symptoms of homocytinuria include arteriosclerosis, thrombosis, dislocated optic lenses, mental retard-ation and skeletal abnormalities.

Background References

1. Kozich V et al. Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. Hum Mutat 31:809-819 (2010).

2. Casique L et al. Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins. Gene 531:117-124 (2013).

Sequence Similarity

Belongs to the cysteine synthase/cystathionine beta-synthase family.

Tissue Specificity

In the adult strongly expressed in liver and pancreas, some expression in heart and brain, weak expression in lung and kidney. In the fetus, expressed in brain, liver and kidney.

Subcellular Location

Cytoplasm. Nucleus.

UNIPROT

SwissProt: P35520 Human

Synonyms