产品名称
ECHA Rabbit Polyclonal Antibody
别名
Trifunctional enzyme subunit alpha, mitochondrial (78 kDa gastrin-binding protein) (TP-alpha) [Includes: Long-chain enoyl-CoA hydratase (EC 4.2.1.17); Long chain 3-hydroxyacyl-CoA dehydrogenase (EC 1.1.1.211)]
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.301% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/3030
Human Swissprot No.
P40939
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P40939/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/97212
Mouse Swissprot No.
Q8BMS1
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q8BMS1
Rat Gene Link
https://www.uniprot.org/uniprot/170670
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q64428
免疫原
Synthesized peptide derived from human ECHA AA range: 276-326
特异性
This antibody detects endogenous levels of ECHA at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008],
细胞定位
Mitochondrion . Mitochondrion inner membrane . Protein stability and association with mitochondrion inner membrane do not require HADHB. .
功能
catalytic activity:(3S)-3-hydroxyacyl-CoA = trans-2(or 3)-enoyl-CoA + H(2)O.,catalytic activity:(S)-3-hydroxyacyl-CoA + NAD(+) = 3-oxoacyl-CoA + NADH.,disease:Defects in HADHA are a cause of maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]. AFLP is a severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome).,disease:Defects in HADHA are a cause of trifunctional protein deficiency (TFP deficiency) [MIM:609015]. The clinical manifestations are very variable and include hypoglycemia, cardiomyopathy and sudden death. Phenotypes with mainly hepatic and neuromyopathic involvement can also be distinguished. Biochemically, TFP deficiency is defined by the loss of all enzyme activities of the TFP complex.,disease:Defects in HADHA are the cause of long-chain 3-hydroxyl-CoA dehydrogenase deficiency (LCHAD deficiency) [MIM:609016]. The clinical features are very similar to TFP deficiency. Biochemically, LCHAD deficiency is characterized by reduced long-chain 3-hydroxyl-CoA dehydrogenase activity, while the other enzyme activities of the TFP complex are normal or only slightly reduced.,function:Bifunctional subunit.,pathway:Lipid metabolism; fatty acid beta-oxidation.,similarity:Belongs to the enoyl-CoA hydratase/isomerase family.,similarity:In the central section; belongs to the 3-hydroxyacyl-CoA dehydrogenase family.,similarity:In the N-terminal section; belongs to the enoyl-CoA hydratase/isomerase family.,subunit:Octamer of 4 alpha (HADHA) and 4 beta (HADHB) subunits.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
