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.
Conjugation :	HIS
Source :	E. coli
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.
Form :	Lyophilised:Reconstitute with 153 μl aqua dest.
Storage buffer :	Preservative: NoneConstituents: 0.5% Trehalose, 6M Urea, 100mM Sodium phosphate, 10mM Sodium chloride, pH 4.5
Storage :	Shipped at 4°C. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
Sequences of amino acids :	QQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCRIIGVD PEGSILAEPEELNQTEQTTYEVEGIGYDFIPTVLDRTV VDKWFKSNDEEAFTFARMLIAQEGLLCGGSAGSTVAVA VKAAQELQEGQRCVVILPDSVRNYMTKFLSDRWMLQKG FLKEEDLTEKKPWWWHLRVQELGLSAPLTVLPTITCGHTI EILREKGFDQAPVVDEAGVILGMVTLGNMLSSLLAGKV QPSDQVGKVIYKQFKQIRLTDTLGRLSHILEMDHFALV VHEQIQYHSTGKSSQRQMVFGVVTAIDLLNFVAAQERD QK
Sequence Similarities :	Belongs to the cysteine synthase/cystathionine beta-synthase family.Contains 1 CBS domain.
Protein length :	242-551 a.a.

Gene Name	CBS cystathionine-beta-synthase [ Homo sapiens ]
Official Symbol	CBS
Synonyms	CBS; cystathionine-beta-synthase; cystathionine beta-synthase; HIP4;
Gene ID	875
mRNA Refseq	NM_000071
Protein Refseq	NP_000062
MIM	613381
Uniprot ID	P35520
Chromosome Location	21q22.3
Pathway	Cysteine and methionine metabolism, organism-specific biosystem; Cysteine and methionine metabolism, conserved biosystem; Cysteine biosynthesis, homocysteine + serine => cysteine, organism-specific biosystem; Cysteine biosynthesis, homocysteine + serine =>
Function	cystathionine beta-synthase activity; enzyme binding; heme binding; heme binding; lyase activity;