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.
1489.15RON
În stoc
Număr Catalog 665-STJ28605CategorieAfaceri și industrie > Știință și laboratorFurnizorSt John's LaboratoryGentaurDimensiune100 µlTipsingle