Description
Product Characteristics:
Aliases: 5 @aminolevulinate synthase erythroid specific antibody, 5 aminolevulinate synthase 2 antibody, 5 aminolevulinate synthase 5 aminolevulinate synthase 2 antibody, 5 aminolevulinate synthase erythroid specific mitochondrial antibody, 5 aminolevulinic acid synthase 2 antibody, 5 aminolevulinic acid synthase antibody, 5-aminolevulinate synthase antibody, 5-aminolevulinic acid synthase 2 antibody, Alas 2 antibody, ALAS antibody, ALAS E antibody, ALAS, erythroid antibody, ALAS-E antibody, Alas2 antibody, ALASE antibody, Aminolevulinate delta synthase 2 antibody, Aminolevulinic acid synthase 2, erythroid antibody, ANH1 antibody, ASB antibody, Delta ALA synthase 2 antibody, Delta ALA synthetase antibody, Delta aminolevulinate synthase 2 antibody, Delta aminolevulinate synthase antibody, Delta-ALA synthase 2 antibody, Delta-aminolevulinate synthase 2 antibody, Erythroid specific ALAS antibody, erythroid-specific antibody, FLJ93603 antibody, HEM0_HUMAN antibody, mitochondrial antibody, OTTHUMP00000023388 antibody, OTTHUMP00000023389 antibody, OTTMUSP00000020679 antibody, RP23-338A17.1 antibody, SIDBA1 antibody, XLDPP antibody, XLEPP antibody, XLSA antibody
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]