hip4 antibody, GB12529 antibody, CBS antibody, DDBDRAFT_0189727 antibody, DDBDRAFT_0191292 antibody, DDB_0189727 antibody, DDB_0191292 antibody, cbs antibody, AI047524 antibody, AI303044 antibody, HIP4 antibody, cb442 antibody, wu:fb37g05 antibody, wu:fm61c07 antibody, wu:fq06c06 antibody, zgc:113704 antibody, cystathionine-beta-synthase L homeolog antibody, cystathionine-beta-synthase antibody, cystathionine beta-synthase antibody, cystathionine beta-synthase CBS antibody, cystathionine beta synthase antibody, cystathionine-beta-synthase S homeolog antibody, cystathionine-beta-synthase b antibody, cbs.L antibody, cbs antibody, Cbs antibody, CBS antibody, CNA06170 antibody, Tb11.02.5400 antibody, cysB antibody, LOC100635325 antibody, cbs.S antibody, cbsb antibody
背景
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. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016],HIP4,Amino acid metabolism,Cancer,Endocrine & Metabolism,Signal Transduction,CBS