Anti-ALAS2 / ASB / 5-aminolevulinic acid synthase 2

0.5mg/ml if reconstituted with 0.2ml sterile DI water. Delta-aminolevulinate synthase 2 also known as ALAS2 is a protein that in humans is encoded by the ALAS2 gene. 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. Protein function: Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products (PubMed:14643893, PubMed:32499479, PubMed:21252495, PubMed:21653323, PubMed:21309041). Contributes significantly to heme formation during erythropoiesis (PubMed:2050125). [The UniProt Consortium]