Recombinant人ALAS2 protein (ab79941)

概述

  • 产品名称Recombinant人ALAS2 protein
  • 蛋白长度Protein fragment

描述

  • 性质Recombinant
  • 来源Escherichia coli
  • 氨基酸序列
    • 种属Human
    • 氨基酸136 to 553
    • 标签His tag N-Terminus

技术指标

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.

  • 应用

    SDS-PAGE

  • 纯度> 90 % SDS-PAGE.

  • 形式Liquid
  • Concentration information loading...

制备和贮存

  • 稳定性和存储

    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

常规信息

  • 别名
    • 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
  • 组织特异性Erythroid specific.
  • 通路Porphyrin metabolism; protoporphyrin-IX biosynthesis; 5-aminolevulinate from glycine: step 1/1.
  • 疾病相关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).
  • 序列相似性Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
  • 细胞定位Mitochondrion matrix.
  • Information by UniProt

Recombinant Human ALAS2 protein 图像

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

Recombinant Human ALAS2 protein (ab79941)参考文献

ab79941 has not yet been referenced specifically in any publications.

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