Recombinant Human ALAS2 protein (ab79941)

Overview

  • Product nameRecombinant Human ALAS2 protein
  • Protein lengthProtein fragment

Description

  • NatureRecombinant
  • SourceEscherichia coli
  • Amino Acid Sequence
    • SpeciesHuman
    • Amino acids136 to 553
    • TagsHis 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.

  • FormLiquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

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

    Preservative: None
    Constituents: 20% Glycerol, 0.05% Tween 20, 3mM DTT, 25mM Tris HCl, 100mM Sodium chloride, 20 µM pyridoxal 5' phosphate monohydrate pH 8.0

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 specificityErythroid specific.
  • PathwayPorphyrin metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.
  • Involvement in diseaseDefects 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 similaritiesBelongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
  • Cellular localizationMitochondrion matrix.
  • Information by UniProt

Recombinant Human ALAS2 protein images

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

References for Recombinant Human ALAS2 protein (ab79941)

ab79941 has not yet been referenced specifically in any publications.

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