Name
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5'-aminolevulinate synthase 2 | Cytological Location | Xp11.21 |
Brief Description | 5'-aminolevulinate synthase 2 |
Description | 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] |