Symbol: Name: ID: |
CBS cystathionine-beta-synthase GFS:4706 |
Gene name: | CBS |
Chromosome: | 21q22.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | HIP4 |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:88285 | Rat Genome Database ID: | RGD:2287 |
HGNC ID: | HGNC:1550 | RefSeq IDs: | NM_000071 |
Entrez Gene ID: | 875 | Ensembl Gene ID: | ENSG00000160200 |
VEGA IDs: | OTTHUMG00000086834 | UniProt ID: | P35520 |
UCSC ID: | uc002zcu.2 | OMIM ID: | 613381 |
Pubmed: | PMID9790750 | ||
CCDS IDs: | CCDSCCDS13693.1 |
Cystathionine-β-synthase, also known as CBS, is an enzyme (EC 4.2.1.22) that in humans is encoded by the CBS gene.
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].
Function: 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 (By similarity).
Products for CBS gene
Catalog | Product Name | Application | Company |
GFS:E04706 | cystathionine-beta-synthase; ELISA kit | ELISA | n/a |
GFS:A04706 | cystathionine-beta-synthase; Anti | ANTIBODIES | n/a |
GFS:P04706 | cystathionine-beta-synthase; Protien | Protien | n/a |