NP_000062.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
61,863 Da
NCBI Official Full Name
cystathionine beta-synthase
NCBI Official Synonym Full Names
cystathionine-beta-synthase
NCBI Official Synonym Symbols
NCBI Protein Information
cystathionine beta-synthase; beta-thionase; serine sulfhydrase; methylcysteine synthase
UniProt Protein Name
Cystathionine beta-synthase
UniProt Synonym Protein Names
Beta-thionase; Serine sulfhydrase
UniProt Entry Name
CBS_HUMAN
NCBI Summary for CBS
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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]
UniProt Comments for CBS
CBS: Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide, especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the brain to protect neurons against hypoxic injury. Defects in CBS are the cause of cystathionine beta- synthase deficiency (CBSD). CBSD is an enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. Belongs to the cysteine synthase/cystathionine beta- synthase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Other Amino Acids Metabolism - selenoamino acid; Lyase; Amino Acid Metabolism - glycine, serine and threonine; Amino Acid Metabolism - cysteine and methionine; EC 4.2.1.22
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: intracellular membrane-bound organelle; nucleolus; nucleus; cytosol
Molecular Function: identical protein binding; protein binding; protein homodimerization activity; enzyme binding; cystathionine beta-synthase activity; metal ion binding; ubiquitin protein ligase binding; heme binding; pyridoxal phosphate binding
Biological Process: cysteine biosynthetic process via cystathionine; homocysteine catabolic process; sulfur amino acid metabolic process; L-serine metabolic process; transsulfuration; cysteine biosynthetic process from serine; homocysteine metabolic process; L-serine catabolic process; L-cysteine catabolic process
Disease: Homocystinuria Due To Cystathionine Beta-synthase Deficiency
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Products associated with anti-CBS antibody
Pathways associated with anti-CBS antibody
Diseases associated with anti-CBS antibody
Organs/Tissues associated with anti-CBS antibody
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