GAMT (NM_138924) Human Recombinant Protein

Product Specifications

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. [provided by RefSeq, Feb 2012]

Overview

Recombinant protein of human guanidinoacetate N-methyltransferase (GAMT), transcript variant 2

Synonyms

CCDS2; HEL-S-20; PIG2; TP53I2

Gene ID

2593

UniProt

Q14353, Q14353-2

Accession Number mRNA

NM_138924

Chromosomal Location

19p13.3

Expression System

HEK293T

Tag

C-Myc/DDK

Related Pathways

Arginine and proline metabolism, Glycine, serine and threonine metabolism, Metabolic pathways

Field of Research

Arginine and proline metabolism, Glycine, serine and threonine metabolism, Metabolic pathways

Concentration

>50 ug/mL as determined by microplate BCA method

Purity

> 80% as determined by SDS-PAGE and Coomassie blue staining

Form

Liquid

Buffer

25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

Function

Druggable Genome

Molecular Weight

29.2 kDa

Storage Conditions

Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

Symbol

GAMT

Species

Human

Protein ID

NP_620279

Gene ID URL

https://www.ncbi.nlm.nih.gov/gene/2593

Uniprot URL

https://www.uniprot.org/uniprot/Q14353

Accession Number mRNA URL

https://www.ncbi.nlm.nih.gov/nuccore/NM_138924

Protein ID Link

https://www.ncbi.nlm.nih.gov/nuccore/NP_620279

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