1-832-868-1888
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Catalog Number: |
39033 |
| other_names: | PIG2; CCDS2; TP53I2; HEL-S-20; |
Amount: |
100μg |
| calculated_mw: | |
| host_species: | Rabbit |
Price: |
$319 |
Swiss-Prot No: |
Swiss-Prot#: Q14353 |
Form of Antibody: |
Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol. |
Storage/Stability: |
|
Immunogen: |
Recombinant protein of human GAMT. |
Purification: |
Antibodies were purified by affinity purification using immunogen. |
Specificity/Sensitivity: |
The antibody detects endogenous level of total GAMT antibody. |
Applications: |
WB,IF |
Background: |
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. |
References: |
|
appl_detail: |
WB 1:500 - 1:2000 |
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