| Species : |
Human |
| Source : |
E.coli |
| Tag : |
His |
| Description : |
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. |
| Form : |
Supplied as a 0.2 µM filtered solution of 20mM Tris-HCl, 1mM DTT, pH 8.0 |
| Molecular Mass : |
29.5kD |
| Identity : |
Endotoxin level is <0.1 ng/µg of protein (<1EU/µg). |
| AA Sequence : |
MGSSHHHHHHSSGLVPRGSHMSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPRQTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTEVMALVPPADCRYYAFPQMITPLVTK |
| Endotoxin : |
Endotoxin level is <0.1 ng/µg of protein (<1EU/µg). |
| Purity : |
>95% as determined by SDS-PAGE and Coomassie blue staining |