氨基甲酸乙酰转移酶抗体
规格：1mg/1ml
英文名： NAGS
别名： 1700120E20Rik; AGAS; AI415708; Amino-acid acetyltransferase; ARGA; EC 2.3.1.1; MGC133025; NAGS_HUMAN; N-acetylglutamate synthase; N-acetylglutamate synthase, mitochondrial; RP23-398F7.13.
分子量： 56kDa
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 NAGS
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit,
细胞定位：
氨基甲酸乙酰转移酶抗体产品介绍：background: The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008] Function: Plays a role in the regulation of ureagenesis by producing variable amounts of N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity. Subcellular Location: Mitochondrion matrix. Tissue Specificity: Highly expressed in the ***** liver, kidney and small intestine. Weakly expressed in the fetal liver, lung, pancreas, placenta, heart and brain tissue. Post-translational modifications: Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated DISEASE: N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]: Rare氨基甲酸乙酰转移酶抗体 autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation氨基甲酸乙酰转移酶抗体characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. Similarity: Belongs to the acetyltransferase family. Contains 1 N-acetyltransferase domain. Gene ID: 162417 Database links: Entrez Gene: 162417 Human Entrez Gene: 490943 Dog Entrez Gene: 217214 Mouse SwissProt: Q8N159 Human SwissProt: Q8R4H7 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
氨基甲酸乙酰转移酶抗体产品应用：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：肿瘤 细胞生物 信号转导 G蛋白信号
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid