L2HGDH蛋白抗体
规格：1mg/1ml
英文名： L2HGDH
别名： 2 hydroxyglutarate dehydrogenase; Alpha hydroxyglutarate oxidoreductase; Alpha ketoglutarate reductase; C14orf160; Duranin; FLJ12618; L alpha hydroxyglutarate dehydrogenase; L-2-hydroxyglutarate dehyd
分子量： 45kDa
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 L2HGDH
交叉反应：Human, Mouse, Rat, Pig, Cow, Horse, Rabbit, Sheep, Orangutan
细胞定位：
L2HGDH蛋白抗体产品介绍：background: This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation. [provided by RefSeq, Jul 2008] Subcellular Location: Mitochondrion. Tissue Specificity: Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow. DISEASE: Defects in L2HGDH are theL2HGDH蛋白抗体 cause of L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]. L2HGA is a rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. Similarity: Belongs to theL2HGDH蛋白抗体 L2HGDH family. Gene ID: 79944 Database links: Entrez Gene: 514230 Cow Entrez Gene: 79944 Human Entrez Gene: 217666 Mouse Entrez Gene: 100152180 Pig Entrez Gene: 314196 Rat Omim: 609584 Human SwissProt: A7MBI3 Cow SwissProt: Q9H9P8 Human SwissProt: Q91YP0 Mouse SwissProt: Q5R9N7 Orangutan Unigene: 256034 Human Unigene: 103362 Mouse Unigene: 22733 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
L2HGDH蛋白抗体产品应用：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 神经生物学 信号转导 新陈代谢
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid