GAMT Antibody (PACO09408)
- SKU:
- PACO09408
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Reactivity:
- Zebrafish
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Application:
- IHC
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
抗体名: | GAMT Antibody (PACO09408) |
抗体コード: | PACO09408 |
サイズ: | 50ul |
宿主種: | Rabbit |
申し込み: | ELISA, WB, IHC |
推奨される希釈: | |
反応性: | Human, Mouse, Rat, Zebrafish |
免疫原: | Human GAMT |
憲法: | Liquid |
ストレージバッファ: | PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles. |
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 |
シノニム: | guanidinoacetate N-methyltransferase;GAMT;PIG2;TP53I2 ; |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Contractile; Methyltransferase; Amino Acid Metabolism - glycine, serine and threonine; EC 2.1.1.2; 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 |
NCBI Summary: | 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 Code: | Q14353 |
NCBI GenInfo Identifier: | 2498404 |
NCBI Gene ID: | 2593 |
NCBI Accession: | Q14353.1 |
UniProt Secondary Accession: | Q14353,Q53Y34, Q8WVJ1, A8K0A0, |
UniProt Related Accession: | Q14353 |
Molecular Weight: | 236 |
NCBI Full Name: | Guanidinoacetate N-methyltransferase |
NCBI 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 |