短链L-3羟烷基辅酶A脱氢酶抗体
规格：1mg/1ml
英文名： HADHSC
别名： HAD; HADH; HADH1; HADHSC; HCDH; HCDH_HUMAN; HHF4; Hydroxyacyl CoA dehydrogenase; Hydroxyacyl-coenzyme A dehydrogenase; hydroxyacyl-coenzyme A dehydrogenase, mitochondrial; L 3 hydroxyacyl Coenzyme A d
分子量： 33kDa
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 HADHSC
交叉反应：Human, Mouse, Rat, Pig, Cow,
细胞定位：细胞浆 线粒体
短链L-3羟烷基辅酶A脱氢酶抗体产品介绍：background: This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids. Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia. The human genome contains a related pseudogene of this gene on chromosome 15. [provided by RefSeq.] Function: Plays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA. Subunit: Homodimer. Subcellular Location: Mitochondrion matrix. Tissue Specificity: Expressed in liver, kidney, pancreas, heart and skeletal muscle.短链L-3羟烷基辅酶A脱氢酶抗体 DISEASE: Defects in HADH are the cause of 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]. HADH deficiency is a metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. Defects in HADH are the cause of familial hyperinsulinemic hypoglycemia type 4 (HHF4) [MIM:609975]; also known as persistent hyperinsulinemic hypoglycemia of infancy (PHHI) or congenital hyperinsulinism. HHF is the most common cause of persistent hypoglycemia in infancy and is due to defective negative feedback regulation of insulin secretion by low glucose levels. It causes nesidioblastosis, a diffuse abnormality of the pancreas in which there is extensive, often disorganized formation of new islets. Unless early and aggressive intervention is 短链L-3羟烷基辅酶A脱氢酶抗体undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF4 should be easily recognizable by analysis of acylcarnitine species and that this disorder responds well to treatment with diazoxide. It provides the first 'experiment of nature' that links impaired fatty acid oxidation to hyperinsulinism and that provides support for the concept that a lipid signaling pathway is implicated in the control of insulin secretion. Similarity: Belongs to the 3-hydroxyacyl-CoA dehydrogenase family. Gene ID: 3033 Database links: Entrez Gene: 3033 Human Entrez Gene: 15107 Mouse Entrez Gene: 113965 Rat Omim: 601609 Human SwissProt: Q16836 Human SwissProt: Q61425 Mouse SwissProt: Q9WVK7 Rat Unigene: 438289 Human Unigene: 260164 Mouse Unigene: 92789 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
短链L-3羟烷基辅酶A脱氢酶抗体产品应用：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 激酶和磷酸酶 糖尿病 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