Rabbit anti-Human CBS Polyclonal Antibody

Uniprot Id

P35520

Target Species

Human

Target Name

CBS

Target Full Name

Cystathionine beta-synthase

Target Function

Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine. Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons.

Target Involvement

Cystathionine beta-synthase deficiency (CBSD)

Target Subcellular Location

Cytoplasm. Nucleus.

Target Protein Families

Cysteine synthase/cystathionine beta-synthase family

Target 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.

Target Research Area

Metabolism

Target Synonyms

AI047524; AI303044; Beta thionase; Beta-thionase; Cbs; Cbs cystathionine beta-synthase; CBS_HUMAN; Cystathionine beta synthase; Cystathionine beta-synthase; EC 4.2.1.22; HIP 4; HIP4; Methylcysteine synthase; MGC18856; MGC18895; MGC37300; OTTHUMP00000109416; OTTHUMP00000109418; Serine sulfhydrase

Target Background

The protein encoded by this gene acts as a homotetramer to catalyze 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. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene.