Recombinant fusion protein of human GAMT(NP_000147.1).
Konjugation:
Unconjugated
Alternative Synonym:
GAMT,CCDS2,HEL-S-20,PIG2,TP53I2
The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13.
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
Formulierung:
1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2
