Description
Product Characteristics:
5-aminolevulinate synthase 1 (ALAS-H) and 2 (ALAS-E) are two isoforms of ALAS, an enzyme catalyzing the first step of the heme biosynthetic pathway in mammals. The erythroid-specific isoenzyme, ALAS-E, regulates the first step of hematopoietic cell differentation and iron metabolism in the liver. ALAS-H is a housekeeping protein which mediates synthesis of early heme in the mitochondria of most cells. Succinyl CoA associates with ALAS-E in protein conformation change and translocation of ALAS-E into the mitochondria and does not interact with ALAS-H. The ALAS-E 5'-flanking region contains binding sites for nuclear activators such as GATA-1, NF-E2 and EKLF. Since the ALAS gene maps to the X chromosome, mutation of the gene leads to the pyridoxine-refractory X-linked sideroblastic anemia.
Synonyms: 5-aminolevulinate synthase, erythroid-specic, mitochondrial, 5-aminolevulinic acid synthase, ALAS E, ALASE, ANH1, Delta aminolevulinate synthase, XLSA, 5 aminolevulinic acid synthase 2, 5-aminolevulinate synthase 2, 5-aminolevulinate synthase, 5-aminolevulinate synthase 2, Alas 2, ALAS, ALAS E, ALAS, erythroid, ALASE, Aminolevulinate, delta-, synthase 2, Aminolevulinic acid synthase 2, erythroid, ANH1, ASB, Delta ALA synthase 2, Delta ALA synthetase, Delta aminolevulinate synthase 2, Delta aminolevulinate synthase, Erythroid specic ALAS, FLJ93603, XLDPP, XLSA.
Target Information: 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]