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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.
Gene Name: | aminolevulinate, delta-, synthase 2 |
Synonyms: | ALAS2, ALASE, ANH1, ASB, Delta-ALA synthetase, ALAS-E, XLDPP, XLSA, Delta-ALA synthase 2, XLEPP |
Target Sequences: | NM_000032 NP_000023.2 P22557 |
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