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.
应用类型
IF,WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 50-320 of human ALAS2 (NP_001033057.1).
