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Rabbit Anti-OTC/Ornithine Carbamoyltransferase/APC Conjugated antibody (bs-18037R-APC)
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說 明 書: 100ul  
100ul/2980.00元
大包裝/詢價
產(chǎn)品編號 bs-18037R-APC
英文名稱1 Rabbit Anti-OTC/Ornithine Carbamoyltransferase/APC Conjugated antibody
中文名稱 APC標記的鳥氨酸氨甲?;€粒體抗體
別    名 EC 2.1.3.3; MGC129967; MGC129968; MGC138856; OCTD; Ornithine carbamoyltransferase mitochondrial; Ornithine carbamoyltransferase, mitochondrial; Ornithine transcarbamylase; Otc; OTC_HUMAN; OTCase.  
規(guī)格價格 100ul/2980元 購買        大包裝/詢價
說 明 書 100ul  
研究領(lǐng)域 細胞生物  免疫學(xué)  神經(jīng)生物學(xué)  信號轉(zhuǎn)導(dǎo)  新陳代謝  線粒體  
抗體來源 Rabbit
克隆類型 Polyclonal
交叉反應(yīng) Mouse, Rat,  (predicted: Human, Dog, Pig, Cow, Horse, Sheep, )
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 36kDa
性    狀 Lyophilized or Liquid
濃    度 1mg/ml
免 疫 原 KLH conjugated synthetic peptide derived from human OTC/Ornithine Carbamoyltransferase
亞    型 IgG
純化方法 affinity purified by Protein A
儲 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:
This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [provided by RefSeq, Jul 2008]

Subcellular Location:
Mitochondrion matrix.

Tissue Specificity:
Mainly expressed in liver and intestinal mucosa.

Post-translational modifications:
Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals.

DISEASE:
Defects in OTC are the cause of ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]. OTCD is an X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms.

Similarity:
Belongs to the ATCase/OTCase family.

Database links:

Entrez Gene: 280887 Cow

Entrez Gene: 480878 Dog

Entrez Gene: 5009 Human

Entrez Gene: 18416 Mouse

Entrez Gene: 397438 Pig

Entrez Gene: 25611 Rat

Entrez Gene: 101102207 Sheep

Omim: 300461 Human

SwissProt: Q9N1U7 Cow

SwissProt: P00480 Human

SwissProt: P11725 Mouse

SwissProt: O19072 Pig

SwissProt: P00481 Rat

SwissProt: P84010 Sheep

Unigene: 117050 Human

Unigene: 2611 Mouse

Unigene: 2391 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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