GAMT recombinant protein

Recombinant GAMT protein

Cat. Num. AAA389437

• Gene Names: GAMT; PIG2; CCDS2; TP53I2; HEL-S-20
• Synonyms: GAMT; Recombinant GAMT protein; Guanidinoacetate N-methyltransferase; GAMT recombinant protein

• Host: E Coli
• Form/Format: Recombinant GAMT protein is supplied in 25mM Tris pH8.0, 300mM NaCl, 10% glycerol, 0.5mM TCEP.

• Protein Species: Human
• Tag: His-Tag
• Protein Details: Recombinant GAMT protein was expressed in E Coli as the full length protein (accession number NP_000147.1) with an N-terminal 6×His-tag.
• Notes: This product was manufactured as described in Protein Details. Where possible, We has developed functional or activity assays for recombinant proteins. Additional characterization such as enzyme kinetic activity assays, inhibitor screening or other biological activity assays may not have been performed for every product. All available data for a given product is shown on the lot-specific Technical Data Sheet.
• Dry Ice Shipment: Extra charge fee may add to your shipping cost as dry ice is required to ship this product.
• Preparation and Storage: Recombinant proteins in solution are temperature sensitive and must be stored at -80 degree C to prevent degradation. Avoid repeated freeze/thaw cycles and keep on ice when not in storage.; Shipping Temp: Dry Ice

SDS-Page

(Recombinant GAMT protein 12.5% SDS-PAGE Coomassie staining M.W.: 28.11 kDa Purity: ? 95%)

Related Product Information for GAMT recombinant protein

Background: Guanidinoacetate N-methyltransferase is also known as GAMT.The main function of GAMT is Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor.Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited disorder of creatine biosynthesis. GAMT enzyme deficiency caused by mutations in the GAMT gene results in the depletion of creatine and accumulation of guanidinoacetate (GAA). Creatine has a buffering and transport function of high-energy phosphates in brain and muscle and is essential for growth cone migration, dendritic and axonal elongation, neurotransmitter release, and cotransmission on gamma amino butyric acid (GABA) postsynaptic receptors in the central nervous system.

Product Categories/Family for GAMT recombinant protein

Recombinant Proteins

NCBI and Uniprot Product Information

• NCBI GI #: 4503909
• NCBI GeneID: 2593
• NCBI Accession #: NP_000147.1
• NCBI GenBank Nucleotide #: NM_000156.5
• UniProt Accession #: Q14353; Q53Y34; Q8WVJ1; A8K0A0
• Molecular Weight: 29,377 Da
• NCBI Official Full Name: guanidinoacetate N-methyltransferase isoform a
• NCBI Official Synonym Full Names: guanidinoacetate N-methyltransferase
• NCBI Official Symbol: GAMT
• NCBI Official Synonym Symbols: PIG2; CCDS2; TP53I2; HEL-S-20
• NCBI Protein Information: guanidinoacetate N-methyltransferase; epididymis secretory protein Li 20
• UniProt Protein Name: Guanidinoacetate N-methyltransferase
• Protein Family: Guanidinoacetate N-methyltransferase
• UniProt Gene Name: GAMT
• UniProt Entry Name: GAMT_HUMAN

NCBI 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. [provided by RefSeq, Feb 2012]

Uniprot Description

GAMT: Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency (GAMT deficiency). GAMT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids. Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Methyltransferase; EC 2.1.1.2; Amino Acid Metabolism - glycine, serine and threonine; Contractile; Amino Acid Metabolism - arginine and proline

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: cytosol

Molecular Function: methyltransferase activity; guanidinoacetate N-methyltransferase activity

Biological Process: methylation; creatine biosynthetic process; organ morphogenesis; muscle contraction; regulation of multicellular organism growth; spermatogenesis; creatine metabolic process

Disease: Cerebral Creatine Deficiency Syndrome 2