鸟氨酸氨甲酰基线粒体抗体
规格：1mg/1ml
英文名： OTC/Ornithine Carbamoyltransferase
别名： EC 2.1.3.3; MGC129967; MGC129968; MGC138856; OCTD; Ornithine carbamoyltransferase mitochondrial; Ornithine carbamoyltransferase, mitochondrial; Ornithine transcarbamylase; Otc; OTC_HUMAN; OTCase.
分子量： 36kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human OTC/Orni
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Sheep,
细胞定位：
鸟氨酸氨甲酰基线粒体抗体产品介绍：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鸟氨酸氨甲酰基线粒体抗体 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. Gene ID: 5009 Database links: Entrez Gene: 280887 鸟氨酸氨甲酰基线粒体抗体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.
鸟氨酸氨甲酰基线粒体抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 **学 神经生物学 信号转导 新陈代谢 线粒体
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid