NP_000062.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
64.5 kDa
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
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: Amino Acid Metabolism - cysteine and methionine; Lyase; Amino Acid Metabolism - glycine, serine and threonine; EC 4.2.1.22; Other Amino Acids Metabolism - selenoamino acid
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: cytoplasm; cytosol; nucleus
Molecular Function: cystathionine beta-synthase activity; cysteine synthase activity; enzyme binding; heme binding; identical protein binding; metal ion binding; nitrite reductase (NO-forming) activity; oxygen binding; protein binding; protein homodimerization activity; pyridoxal phosphate binding; ubiquitin protein ligase binding
Biological Process: cysteine biosynthetic process; cysteine biosynthetic process from serine; cysteine biosynthetic process via cystathionine; DNA protection; homocysteine catabolic process; homocysteine metabolic process; L-cysteine catabolic process; L-serine catabolic process; L-serine metabolic process; selenium metabolic process; sulfur amino acid metabolic process; transsulfuration
Disease: Homocystinuria Due To Cystathionine Beta-synthase Deficiency
Product References and Citations for CBS recombinant protein
Human cystathionine beta-synthase cDNA
sequence, alternative splicing and expression in cultured cells.Kraus J.P., Le K., Swaroop M., Ohura T., Tahara T., Rosenberg L.E., Roper M.D., Kozich V.Hum. Mol. Genet. 2:1633-1638(1993)
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with CBS recombinant protein
Pathways associated with CBS recombinant protein
Organs/Tissues associated with CBS recombinant protein
|