Recombinant Human ALAS2 protein (ab79941)

製品の概要

  • 製品名Recombinant Human ALAS2 protein
  • タンパク質長Protein fragment

製品の詳細

  • 由来Recombinant
  • 由来Escherichia coli
  • アミノ酸配列
    • 生物種Human
    • 領域136 to 553
    • タグHis tag N-Terminus

特性

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.

  • アプリケーション

    SDS-PAGE

  • 精製度> 90 % SDS-PAGE.

  • 製品の状態Liquid
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    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

関連情報

  • 別名
    • 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
  • 組織特異性Erythroid specific.
  • パスウェイPorphyrin metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.
  • 関連疾患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).
  • 配列類似性Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
  • 細胞内局在Mitochondrion matrix.
  • Information by UniProt

Recombinant Human ALAS2 protein 画像

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

Recombinant Human ALAS2 protein (ab79941) 使用論文

ab79941 has not yet been referenced specifically in any publications.

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