基因名：
ALAS2
产品别名：
ALAS-E； ALASE； ANH1； ASB； SIDBA1； XLDPP； XLEPP； XLSA； ALAS2； 5'-aminolevulinate synthase 2； 5'-aminolevulinate synthase 2； 5-aminolevulinate synthase, erythroid-specific, mitochondrial； 5-aminolevulinic acid synthase 2； aminolevulinate, delta-, synthase 2； delta-ALA synthase 2； delta-ALA synthetase； delta-aminolevulinate synthase 2； erythroid-specific delta-aminolevulinate synthase； 5-氨基乙酰丙酸合酶1； 氨乙酰丙酸δ合酶2(ALAS2)；
背景信息：
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.
