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ALAS2 specifies an erythroid-specific mitochondrially located enzyme. It catalyzes the first step in the heme biosynthetic pathway. Defects in this 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.
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Protein Aliases: 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase 2; ALAS-E; aminolevulinate, delta-, synthase 2; Delta-ALA synthase 2; delta-ALA synthetase; Delta-aminolevulinate synthase 2; PRO2399; RP5-884M20.1
Gene Aliases: ALAS-E; ALAS2; ALASE; ANH1; ASB; SIDBA1; XLDPP; XLEPP; XLSA
UniProt ID: (Human) P22557
Entrez Gene ID: (Human) 212
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