Overview

  • Product name

    Recombinant Human ALAS2/ASB protein
  • Protein length

    Protein fragment

Description

  • Nature

    Recombinant
  • Source

    Escherichia coli
  • Amino Acid Sequence
    • Species

      Human
    • Amino acids

      136 to 553
    • Tags

      His tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab79941 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

    > 90 % SDS-PAGE.

  • Form

    Liquid
  • Additional notes

     This product was previously labelled as ALAS2

     

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on Dry Ice. Upon delivery aliquot. Store at -80°C. Avoid freeze / thaw cycle.

    pH: 8.00
    Constituents: 0.0462% DTT, 0.395% Tris HCl, 0.05% Tween, 20% Glycerol, 0.58% Sodium chloride, 0.00053% PLP

General Info

  • Alternative names

    • 5 @aminolevulinate synthase erythroid specific
    • 5 aminolevulinate synthase 2
    • 5 aminolevulinate synthase 5 aminolevulinate synthase 2
    • 5 aminolevulinate synthase erythroid specific mitochondrial
    • 5 aminolevulinic acid synthase
    • 5 aminolevulinic acid synthase 2
    • 5-aminolevulinate synthase
    • 5-aminolevulinic acid synthase 2
    • ALAS
    • Alas 2
    • ALAS E
    • ALAS, erythroid
    • ALAS-E
    • Alas2
    • ALASE
    • Aminolevulinate delta synthase 2
    • Aminolevulinic acid synthase 2, erythroid
    • ANH1
    • ASB
    • Delta ALA synthase 2
    • Delta ALA synthetase
    • Delta aminolevulinate synthase
    • Delta aminolevulinate synthase 2
    • Delta-ALA synthase 2
    • Delta-aminolevulinate synthase 2
    • Erythroid specific ALAS
    • erythroid-specific
    • FLJ93603
    • HEM0_HUMAN
    • mitochondrial
    • OTTHUMP00000023388
    • OTTHUMP00000023389
    • OTTMUSP00000020679
    • RP23-338A17.1
    • SIDBA1
    • XLDPP
    • XLEPP
    • XLSA
    see all
  • Tissue specificity

    Erythroid specific.
  • Pathway

    Porphyrin metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.
  • Involvement in disease

    Defects in ALAS2 are a cause of anemia sideroblastic X-linked (XLSA) [MIM:300751]. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. XLSA shows a variable hematologic response to pharmacologic doses of pyridoxine.
    Defects in ALAS2 are the cause of erythropoietic protoporphyria X-linked dominant (XLDPT) [MIM:300752]. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is a form of porphyria characterized biochemically by a high proportion of zinc-protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. Note=Gain of function mutations in ALS2 are responsible for XLDPT, but they can also be a possible aggravating factor in congenital erythropoietic porphyria and other erythropoietic disorders caused by mutations in other genes (PubMed:21309041).
  • Sequence similarities

    Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
  • Cellular localization

    Mitochondrion matrix.
  • Information by UniProt

Images

  • 105 SDS-PAGE showing ab79941 at approximately 46kDa (8µg).

References

ab79941 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

Answer

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