Presku: | AAP41891 |
Size: | 100 ug |
Weight: | 57kDa |
Gene: | 212 |
Format: | Lyophilized powder |
Target: | ALAS2 specifies an erythroid-specific mitochondrially located enzyme. The protein catalyzes the first step in the heme biosynthetic pathway. Defects in its gene cause X-linked pyridoxine-responsive sideroblastic anemia.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. |
Alternative names: | ANH1, ASB, PRO2399 |