Overview

Description

  • NatureRecombinant
  • SourceE. coli
  • Amino Acid Sequence
    • Amino acids0 to 0

Specifications

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.

  • Applications

    Mass Spectrometry

    SDS-PAGE

  • Purity> 95 % by SDS-PAGE.

  • FormLiquid
  • 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

General info

  • Alternative names
    • 3 hydroxyacyl Coenzyme A dehydrogenase
    • HAD
    • HADH
    • HADH1
    • HADHSC
    • HADHSC, formerly
    • HADSC, formerly
    • HCDH
    • HCDH_HUMAN
    • HHF4
    • 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
    • MGC8392
    • mitochondrial
    • MSCHAD
    • OTTHUMP00000162626
    • OTTHUMP00000219688
    • SCHAD
    • SCHAD, formerly
    • Short chain 3 hydroxyacyl CoA dehydrogenase mitochondrial
    • short chain 3-hydroxyacyl-coa dehydrogenase
    • Short-chain 3-hydroxyacyl-CoA dehydrogenase
    see all
  • 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.
  • Target information above from: UniProt accession Q16836 The UniProt Consortium
    The Universal Protein Resource (UniProt) in 2010
    Nucleic Acids Res. 38:D142-D148 (2010) .

    Information by UniProt

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.

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