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E-AB-61237

GAMT Polyclonal Antibody

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£195.30

Was £217.00

SKU:
E-AB-61237
Additional Names:
CCDS2,GAMT,HEL-S-20,PIG2,TP53I2
Application:
IF
Concentration:
1 mg/ml
Purification:
Affinity Purified
Storage Conditions:
-20[o]C Avoid freeze/thaw cycles.
Supplier:
Elabscience
Host:
Rabbit
Reactivities:
Human, Mouse, Rat
Buffer:
Phosphate buffered solution, pH 7.4, containing 0.05% stabilizer and 50% glycerol.
Immunogen:
Recombinant fusion protein of human GAMT (NP_000147.1).
Uniprot:
Q14353
Synonyms:
CCDS2;epididymis secretory protein Li 20;guanidinoacetate N-methyltransferase;HEL-S-20;PIG2;TP53I2
Extra Details:
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.
Shipping Conditions:
Blue Ice