HADHSC full length protein (ab40712)
- Product nameHADHSC full length proteinSee all HADHSC proteins and peptides ...
- DescriptionRecombinant, His-T7 tag
- SourceE. coli
- Amino Acid Sequence
- Amino acids0 to 0
Our Abpromise guarantee covers the use of ab40712 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
- Purity> 95
% by SDS-PAGE.
- Concentration information loading...
Preparation and Storage
- Stability and Storage
Aliquot and store at -80°C. Avoid repeated freeze / thaw cycles.
Preservative: 0.002% Sodium Azide
Constituents: 0.1% Triton-X-100, 10mM Tris, pH 8.0
- 3 hydroxyacyl Coenzyme A dehydrogenase
- HADHSC, formerly
- HADSC, formerly
- Hydroxyacyl CoA dehydrogenase
- Hydroxyacyl-coenzyme A dehydrogenase
- hydroxyacyl-coenzyme A dehydrogenase, mitochondrial
- L 3 hydroxyacyl Coenzyme A dehydrogenase short chain
- M SCHAD
- Medium and short chain L 3 hydroxyacyl coenzyme A dehydrogenase
- Medium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase
- SCHAD, formerly
- Short chain 3 hydroxyacyl CoA dehydrogenase mitochondrial
- short chain 3-hydroxyacyl-coa dehydrogenase
- Short-chain 3-hydroxyacyl-CoA dehydrogenase
- FunctionPlays an essential role in the mitochondrial beta-oxidation of short chain fatty acids. Exerts it highest activity toward 3-hydroxybutyryl-CoA.
- Tissue specificityExpressed in liver, kidney, pancreas, heart and skeletal muscle.
- PathwayLipid metabolism; fatty acid beta-oxidation.
- Involvement in diseaseDefects 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 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.
- Sequence similaritiesBelongs to the 3-hydroxyacyl-CoA dehydrogenase family.
- Cellular localizationMitochondrion matrix.
HADHSC full length protein images
SDS: Analysis of HADHSC Recombinant Protein. 4-20% SDS gradient gel. Coomassie blue staining. ( HADHSC protein )
References for HADHSC full length protein (ab40712)
ab40712 has not yet been referenced specifically in any publications.