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Background
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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.
Alias Symbols: HIP4
Protein Interaction Partner: UBASH3A, UBE2I, PSMA1, PRKAG1, PIN1, EHHADH, CBS, SUMO1, UBC, NEDD8, PIAS3, RANBP9, PIAS1, CBX4, SRP14, RAD23B, PKM, NUCB1, IREB2, HSF1, LRSAM1, C14orf142, UBA5, IPO4, GOPC, PARP6, NPLOC4, DERA, ERO1L, DBNL, GPN1, PDLIM5, PLIN3, UBA2, GPSM1, COL4A3BP, UGP
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