5-Aminolevulinate Synthase, Erythroid-Specific, Mitochondrial (ALAS2) Antibody

Background

5-Aminolevulinate Synthase 2 (ALAS2) is the erythroid-specific isoform of the enzyme responsible for initiating heme biosynthesis in red blood cell precursors. ALAS2 catalyzes the synthesis of 5-aminolevulinic acid (ALA) from glycine and succinyl-CoA within mitochondria, providing the precursors for hemoglobin synthesis during erythropoiesis. ALAS2 expression is regulated by erythropoietin and iron availability through the iron-responsive element in its mRNA, ensuring heme production is synchronized with hemoglobin synthesis. Mutations in the ALAS2 gene can result in X-linked sideroblastic anemia, a disorder characterized by defective heme production, iron accumulation in mitochondria, and impaired red blood cell function. Enhanced understanding of ALAS2 regulation and activity has therapeutic implications for treating anemia and disorders involving disrupted erythropoiesis, such as thalassemia and myelodysplastic syndromes.