Human GATM Recombinant Protein (RPPB1676)
- SKU:
- RPPB1676
- Product Type:
- Recombinant Protein
- Species:
- Human
- Uniprot:
- P50440
- Research Area:
- Enzymes
Description
| Product Name: | Human GATM Recombinant Protein |
| Product Code: | RPPB1676 |
| Size: | 10µg |
| Species: | Human |
| Target: | GATM |
| Synonyms: | Glycine amidinotransferase, mitochondrial, L-arginine:glycine amidinotransferase, Transamidinase, GATM, AGAT, AT. |
| Source: | Escherichia Coli |
| Physical Appearance: | Sterile Filtered colorless solution. |
| Formulation: | The GATM solution (1mg/ml) contains 20mM Tris-HCl buffer (pH 8.0), 2mM DTT, 10% glycerol and 200mM NaCl. |
| Stability: | Store at 4°C if entire vial will be used within 2-4 weeks. Store, frozen at -20°C for longer periods of time. For long term storage it is recommended to add a carrier protein (0.1% HSA or BSA).Avoid multiple freeze-thaw cycles. |
| Purity: | Greater than 90% as determined by SDS-PAGE. |
| Amino Acid Sequence: | MGSSHHHHHH SSGLVPRGSH MGSMSTQAAT ASSRNSCAAD DKATEPLPKD CPVSSYNEWD PLEEVIVGRA ENACVPPFTI EVKANTYEKY WPFYQKQGGH YFPKDHLKKA VAEIEEMCNI LKTEGVTVRR PDPIDWSLKY KTPDFESTGL YSAMPRDILI VVGNEIIEAP MAWRSRFFEYRAYRSIIKDY FHRGAKWTTA PKPTMADELY NQDYPIHSVE DRHKLAAQGK FVTTEFEPCF DAADFIRAGR DIFAQRSQVT NYLGIEWMRR HLAPDYRVHI ISFKDPNPMH IDATFNIIGP GIVLSNPDRP CHQIDLFKKA GWTIITPPTP IIPDDHPLWM SSKWLSMNVL MLDEKRVMVDANEVPIQKMF EKLGITTIKV NIRNANSLGG GFHCWTCDVR RRGTLQSYLD |
Glycine amidinotransferase mitochondrial (GATM) is a mitochondrial enzyme which is a member of the amidinotransferase family. The GATM enzyme is involved in creatine biosynthesis, where it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine, which has an imperative role in energy metabolism in muscle tissues. GATM is significant in embryonic and central nervous system development. GATM gene mutations cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders.
GATM Human Recombinant produced in E.coli is a single, non-glycosylated polypeptide chain containing 410 amino acids (38-423) and having a molecular mass of 46.9kDa (Molecular size on SDS-PAGE will appear higher).GATM is fused to a 24 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
| UniProt Protein Function: | GATM: Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system development. May be involved in the response to heart failure by elevating local creatine synthesis. Defects in GATM are the cause of arginine:glycine amidinotransferase deficiency (AGAT deficiency). AGAT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Belongs to the amidinotransferase family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Amino Acid Metabolism - arginine and proline; Amino Acid Metabolism - glycine, serine and threonine; Transferase; EC 2.1.4.1; Mitochondrial Chromosomal Location of Human Ortholog: 15q21.1 Cellular Component: mitochondrial inner membrane; mitochondrial intermembrane space Molecular Function:hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines; glycine amidinotransferase activity Biological Process: response to mercury ion; response to peptide hormone stimulus; creatine biosynthetic process; tissue regeneration; response to oxidative stress; creatine metabolic process; response to nutrient Disease: Cerebral Creatine Deficiency Syndrome 3 |
| NCBI Summary: | This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P50440 |
| NCBI GenInfo Identifier: | 1730201 |
| NCBI Gene ID: | 2628 |
| NCBI Accession: | P50440.1 |
| UniProt Secondary Accession: | P50440,Q53EQ4, B4DH99, B4DPI3, |
| UniProt Related Accession: | P50440 |
| Molecular Weight: | 423 |
| NCBI Full Name: | Glycine amidinotransferase, mitochondrial |
| NCBI Synonym Full Names: | glycine amidinotransferase (L-arginine:glycine amidinotransferase) |
| NCBI Official Symbol: | GATM�� |
| NCBI Official Synonym Symbols: | AT; AGAT; CCDS3�� |
| NCBI Protein Information: | glycine amidinotransferase, mitochondrial; transamidinase |
| UniProt Protein Name: | Glycine amidinotransferase, mitochondrial |
| UniProt Synonym Protein Names: | L-arginine:glycine amidinotransferase; Transamidinase |
| Protein Family: | Glycine amidinotransferase |
| UniProt Gene Name: | GATM�� |
| UniProt Entry Name: | GATM_HUMAN |
