Anti-GAMT Antibody (CAB6597)
- SKU:
- CAB6597
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Frequently bought together:
Description
抗体名: | Anti-GAMT Antibody |
抗体コード: | CAB6597 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB IHC IF |
反応性: | Human, Mouse, Rat |
宿主種: | Rabbit |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-236 of human GAMT (NP_000147.1). |
申し込み: | WB IHC IF |
推奨希釈: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200 |
反応性: | Human, Mouse, Rat |
ポジティブサンプル: | HepG2, Jurkat, HeLa, 293T, Mouse liver, Rat liver, Rat brain |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-236 of human GAMT (NP_000147.1). |
精製方法: | Affinity purification |
ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
アイソタイプ: | IgG |
順序: | MSAP SATP IFAP GENC SPAW GAAP AAYD AADT HLRI LGKP VMER WETP YMHA LAAA ASSK GGRV LEVG FGMA IAAS KVQE APID EHWI IECN DGVF QRLR DWAP RQTH KVIP LKGL WEDV APTL PDGH FDGI LYDT YPLS EETW HTHQ FNFI KNHA FRLL KPGG VLTY CNLT SWGE LMKS KYSD ITIM FEET QVPA LLEA GFRR ENIR TEVM ALVP PADC RYYA FPQM ITPL VTKG |
遺伝子ID: | 2593 |
Uniprot: | Q14353 |
セルラーロケーション: | |
計算された分子量: | 26kDa/29kDa |
観察された分子量: | 29kDa |
同義語: | GAMT, CCDS2, HEL-S-20, PIG2, TP53I2 |
バックグラウンド: | 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. |
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 |
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