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Rabbit Anti-GAMT/PE Conjugated antibody (bs-13278R-PE)
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說(shuō) 明 書: 100ul  
100ul/2980.00元
大包裝/詢價(jià)
產(chǎn)品編號(hào) bs-13278R-PE
英文名稱 Rabbit Anti-GAMT/PE Conjugated antibody
中文名稱 PE標(biāo)記的胍基乙酸N甲基轉(zhuǎn)移酶抗體
別    名 GAMT; GAMT_HUMAN; Guanidinoacetate N methyltransferase; Guanidinoacetate N-methyltransferase; PIG2; TP53I2.  
規(guī)格價(jià)格 100ul/2980元 購(gòu)買        大包裝/詢價(jià)
說(shuō) 明 書 100ul  
研究領(lǐng)域 腫瘤  細(xì)胞生物  神經(jīng)生物學(xué)  信號(hào)轉(zhuǎn)導(dǎo)  新陳代謝  
抗體來(lái)源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) Human,  (predicted: Mouse, Rat, Dog, Pig, )
產(chǎn)品應(yīng)用 ICC=1:50-200 IF=1:50-200 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量 26kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human GAMT
亞    型 IgG
純化方法 affinity purified by Protein A
儲(chǔ) 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存條件 Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
產(chǎn)品介紹 background:
In the creatine biosynthesis pathway, glycine is converted to guanidinoacetate by amidinotransferase, and guanidinoacetate is then converted to creatine by Guanidinoacetate N-methyltransferase (GAMT). GAMT, a methyltransferase, uses S-adenosylmethionine as the methyl donor for this reaction. Methyltransferases are a type of transferase enzyme which transfers a methyl group to nucleic bases in DNA or amino acids in protein. Encoding a 236 amino acid protein, the human GAMT gene maps to chromosome 19p13.3. Defects in the GAMT gene leads to GAMT deficiency, which is associated with guanidinoacetate accumulation and decreased levels of creatine excretion in brain. Such biochemical changes are thought to lead to various neurological syndromes and muscular hypotonia.

Tissue Specificity:
Expressed in liver.

DISEASE:
Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]. 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.

Similarity:
Belongs to the RMT2 methyltransferase family.

Database links:

Clone ID: NP_000147.1 Human

Entrez Gene: 2593 Human

Entrez Gene: 25257 Rat

Omim: 601240 Human

SwissProt: Q14353 Human

SwissProt: P10868 Rat

Unigene: 81131 Human

Unigene: 33890 Rat



Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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