中文名称:ALAS2 抗原(重组蛋白)
英文名称: ALAS2 Antigen (Recombinant Protein)
别 名: aminolevulinate, delta-, synthase 2; ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; AL AS-E
储 存: 冷冻(-20℃)
相关类别: 抗原
概 述:
Fusion protein corresponding to C terminal 247 amino acids of human ALAS2 |
Full name: |
aminolevulinate, delta-, synthase 2 |
Synonyms: |
ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E |
Swissprot: |
P22557 |
Gene Accession: |
BC030230 |
Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
Expression system: |
Escherichia coli |
Tags: |
His tag C-Terminus, GST tag N-Terminus |
Background: |
The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. |