γ-5羧酸合成酶抗体
规格：1mg/1ml
英文名： P5CS
别名： 2810433K04Rik; AI429789; Aldehyde dehydrogenase 18 family member A1; Aldehyde dehydrogenase 18A1; Aldehyde dehydrogenase family 18 member A1; ALDH18A1; Delta 1 pyrroline 5 carboxylate synthetase; Delt
分子量： 87kDa
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 P5CS
交叉反应：Human, Mouse, Rat, Rabbit,
细胞定位：
γ-5羧酸合成酶抗体产品介绍：background: This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008] Function: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. Subcellular Location: Mitochondrion inner membrane. DISEASE: Defects in ALDH18A1 are the cause of mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]. Clinical manifestations include microcephaly, progressive neurologic dysfunction, mental retardation, progeroid appearance, joint hypermobility,γ-5羧酸合成酶抗体 skin laxity and hyperelasticity, cataracts. Some patients manifest metabolic disturbances such as hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia. Similarity: In the N-terminal section; belongs to the glutamate 5-kinase family. In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family. Database links: Entrez Gene: 514759 Cow Entrez Geneγ-5羧酸合成酶抗体 477781 Dog Entrez Gene: 100061213 Horse Entrez Gene: 5832 Human Entrez Gene: 56454 Mouse Entrez Gene: 100151977 Pig Entrez Gene: 361755 Rat Omim: 138250 Human SwissProt: P54886 Human SwissProt: Q9Z110 Mouse Unigene: 500645 Human Unigene: 233117 Mouse Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
γ-5羧酸合成酶抗体产品应用：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
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid