Description
| 抗体名: | GATM Antibody (PACO43232) |
| 抗体コード: | PACO43232 |
| サイズ: | 50ul |
| 宿主種: | Rabbit |
| 申し込み: | ELISA, WB, IHC |
| 推奨される希釈: | ELISA:1:2000-1:10000, WB:1:500-1:5000, IHC:1:20-1:200 |
| 反応性: | Human, Mouse |
| 免疫原: | Recombinant Human Glycine amidinotransferase, mitochondrial protein (124-423AA) |
| 憲法: | Liquid |
| ストレージバッファ: | PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| 精製方法: | Antigen Affinity Purified |
| 抗体のクローン性: | Polyclonal |
| アイソタイプ: | IgG |
| Conjugate: | Non-conjugated |
 | Western blot. All lanes: Glycine amidinotransferase, mitochondrial antibody at 2µg/ml + Mouse kidney tissue. Secondary. Goat polyclonal to rabbit IgG at 1/10000 dilution. Predicted band size: 49, 45 kDa. Observed band size: 49 kDa. |
 | Immunohistochemistry of paraffin-embedded human kidney tissue using PACO43232 at dilution of 1:100. |
 | Immunohistochemistry of paraffin-embedded human liver tissue using PACO43232 at dilution of 1:100. |
| バックグラウンド: | 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. |
| シノニム: | Glycine amidinotransferase, mitochondrial (EC 2.1.4.1) (L-arginine:glycine amidinotransferase) (Transamidinase), GATM, AGAT |
| 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 |
