ALAS2 抗原（重组蛋白）

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.