Cystathionine beta Synthase Active Protein | CBS active protein

Cystathionine beta Synthase, human recombinant

Cat. Num. AAA845122

• Gene Names: CBS; HIP4
• Applications: SDS-Page
• Purity: >=90% by SDS-PAGE
• Synonyms: Cystathionine beta Synthase; human recombinant; Beta-thionase; methylcysteine synthase; serine sulfhydrase; CBS active protein

• Host: E Coli
• Purity/Purification: >=90% by SDS-PAGE
• Form/Format: 0.5 mg/ml in 50 mM Tris, 100 mM NaCl, pH 8.0 and 20% glycerol ; Appearance: Liquid
• Sequence Length: 551

• Applicable Applications for CBS active protein: SDS-PAGE
• Application Notes: Recombinant human Cystathionine Beta Synthase can be used in inhibitor screening assays, activity studies, selectivity profiling, Western Blotting, ELISA, and numerouse similar applications.
• Specific Activity: 100 U/mg
• Unit Definition: One unit is defined as the amount of enzyme required to convert 1.0 mumole of L-homocysteine to cystathionine and hydrogen sulfide per minute in 200 mM Tris pH 8.6 at 37 degree C
• Handling: Centrifuge the vial prior to opening.
• Preparation and Storage: At -20 degree C; Stable for at least 1 yr as supplied. Avoid repeated freeze and thaw cycles.

Testing Data

Related Product Information for CBS active protein

Background: Cystathionine beta-synthase (CBS; E.C. 4.2.1.22) is a PLP-dependent enzyme which plays a central role in sulfur amino acid metabolism in eukaryotes. CBS catalyzes condensation between serine and homocysteine to generate cystathionine, which is then further processed by cystathionine gamma-lyase to yield cysteine. The gene encoding CBS is essentially linked to the genetic disorders of homocystinuria and Down syndrome. Homocystinuria is an autosomal recessive disease, characterized by high plasma levels of homocysteine, with clinical manifestations including mental retardation, thromboembolism and connective tissue defects. In addition, CBS also mediates synthesis of hydrogen sulfide by catalyzing condensation between cysteine and homocysteine. CBS is highly expressed in the nervous system, liver and kidney and is responsible for up to 95% of the H2S production in the brain.

Product Categories/Family for CBS active protein

Proteins and Enzymes; Animal-Free Origin (AOF) Recombinant Proteins & EnzymesProteins and Enzymes; Proteins and Enzymes (A-Z)

NCBI and Uniprot Product Information

• NCBI GI #: 4557415
• NCBI GeneID: 875
• NCBI Accession #: NP_000062.1
• NCBI GenBank Nucleotide #: NM_000071.2
• UniProt Accession #: P35520; Q99425; Q9BWC5; B2R993; D3DSK4
• Molecular Weight: 61.9 kDa (1-551 aa, NT His Tag)
• NCBI Official Full Name: cystathionine beta-synthase
• NCBI Official Synonym Full Names: cystathionine-beta-synthase
• NCBI Official Symbol: CBS
• NCBI Official Synonym Symbols: HIP4
• NCBI Protein Information: cystathionine beta-synthase
• UniProt Protein Name: Cystathionine beta-synthase
• Protein Family: Cystathionine beta-synthase
• UniProt Gene Name: CBS
• UniProt Entry Name: CBS_HUMAN

NCBI Description

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 Description

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; Other Amino Acids Metabolism - selenoamino acid; EC 4.2.1.22; Amino Acid Metabolism - glycine, serine and threonine; Lyase

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