Guanidinoacetate-N-Methyltransferase Recombinant Protein | GAMT recombinant protein

Recombinant Guanidinoacetate-N-Methyltransferase (GAMT)

Cat. Num. AAA2033564

• Gene Names: GAMT; PIG2; CCDS2; TP53I2; HEL-S-20
• Applications: SDS-Page, Western Blot, ELISA, Immunoprecipitation
• Purity: > 95%
• Synonyms: Guanidinoacetate-N-Methyltransferase; Recombinant Guanidinoacetate-N-Methyltransferase (GAMT); PIG2; TP53I2; Guanidinoacetate Methyltransferase; Guanidinoacetate Transmethylase; Methionine-Guanidinoacetic Transmethylase; Guanidoacetate Methyltransferase; GAMT recombinant protein

• Host: E Coli
• Purity/Purification: > 95%
• Form/Format: Supplied as lyophilized form in PBS, pH7.4, containing 5% trehalose, 0.01% sarcosyl.
• Sequence: SSSAASPLF APGEDCGPAW RAAPAAYDAS DTHLQILGKP VMERWETPYMHALAAAAASR GGRVLEVGFG MAIAASRVQQ APIEEHWIIE CNDGVFQRLQDWALRQPHKV VPLKGLWEEV APTLPDGHFD GILYDTYPLS EEAWHTHQFNFIKNHAFRLL KTGGVLTYCN LTSWGELMKS KYTDITTMFE ETQVPALQEAGFLKENICTE VMALVPPADC RYYAFPQMIT PLVTKH
• Sequence Length: 236

• Applicable Applications for GAMT recombinant protein: SDS-PAGE, Western (WB), ELISA (EIA), Immunoprecipitation (IP).
• Predicted Molecular Mass: 29.9kDa
• Usage: Reconstitute in sterile PBS, pH7.2-pH7.4.
• Endotoxin Level: <1.0EU per 1 ug (determined by the LAL method)
• Expression System: Prokaryotic expression
• Fragment: Ser2~His236
• Organism Species: Mouse
• Tag: two N-terminal Tags, His-tag and T7-tag
• Preparation and Storage: Avoid repeated freeze/thaw cycles. Store at 2-8 degree C for one month. Aliquot and store at -80 degree C for 12 months.; Stability Test: The thermal stability is described by the loss rate of the target protein. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 degree C for 48h, and no obvious degradation and precipitation were observed. (Referring from China Biological Products Standard, which was calculated by the Arrhenius equation.) The loss of this protein is lessthan 5% within the expiration date under appropriate storage condition.

SDS-Page

NCBI and Uniprot Product Information

• NCBI GI #: 6014689
• NCBI GeneID: 2593
• Molecular Weight: 29,377 Da
• NCBI Official Full Name: guanidinoacetate N-methyltransferase
• 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
• 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: EC 2.1.1.2; Contractile; Amino Acid Metabolism - glycine, serine and threonine; Amino Acid Metabolism - arginine and proline; Methyltransferase

Chromosomal Location of Human Ortholog: 19p13.3

Cellular Component: cytoplasm; cytosol; nucleus

Molecular Function: guanidinoacetate N-methyltransferase activity; methyltransferase activity; protein homodimerization activity

Biological Process: creatine biosynthetic process; creatine metabolic process; methylation; muscle contraction; organ morphogenesis; polyamine metabolic process; regulation of multicellular organism growth; S-adenosylhomocysteine metabolic process; S-adenosylmethionine metabolic process; spermatogenesis

Disease: Cerebral Creatine Deficiency Syndrome 2