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. [provided by RefSeq, Jul 2008]
应用类型
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免疫原
Human recombinant protein fragment corresponding to amino acids 139-287 of human ALAS2(NP_000023) produced in E.coli.
