Overview

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Accession
    • Species

      Human
    • Molecular weight

      34 kDa
    • Amino acids

      1 to 325
    • Tags

      His-DHFR tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab127380 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

  • Purity

    = 50 % Purified via His tag.
    Purity is 50% as measured by SDS-PAGE
  • Form

    Lyophilised
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at -20ºC.

    Constituents: 0.32% Tris HCl, 0.58% Sodium chloride

  • Reconstitution
    Reconstitute with water to desired concentration

General Info

  • Alternative names

    • 3 hydroxy 3 methylglutaryl CoA lyase
    • 3 hydroxy 3 methylglutaryl Coenzyme A lyase
    • 3 hydroxymethyl 3 methylglutaryl Coenzyme A lyase
    • 3 hydroxymethyl 3 methylglutaryl Coenzyme A lyase (hydroxymethylglutaricaciduria)
    • 3-hydroxy-3-methylglutarate-CoA lyase
    • HL
    • HMG CoA lyase
    • HMG CoA Lyase Deficiency
    • HMG-CoA lyase
    • HMGCL
    • HMGCL_HUMAN
    • Hydroxymethylglutaricaciduria
    • Hydroxymethylglutaryl CoA lyase
    • Hydroxymethylglutaryl CoA lyase mitochondrial
    • Hydroxymethylglutaryl-CoA lyase
    • mitochondrial
    • Mitochondrial 3 hydroxy 3 methylglutaryl CoA lyase
    • MS725
    • OTTHUMP00000044830
    see all
  • Function

    Involved in the catabolism of branched amino acids such as leucine.
  • Tissue specificity

    Fibroblasts, liver and lymphoblasts.
  • Pathway

    Metabolic intermediate metabolism; (S)-3-hydroxy-3-methylglutaryl-CoA degradation; acetoacetate from (S)-3-hydroxy-3-methylglutaryl-CoA: step 1/1.
  • Involvement in disease

    Defects in HMGCL are the cause of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]; also known as hydroxymethylglutaricaciduria or HL deficiency. An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.
  • Sequence similarities

    Belongs to the HMG-CoA lyase family.
  • Cellular localization

    Mitochondrion matrix.
  • Information by UniProt

References

ab127380 has not yet been referenced specifically in any publications.

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