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Official Full Name
aminolevulinate, delta-, synthase 2
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.
ALAS2; aminolevulinate, delta-, synthase 2; aminolevulinate, delta , synthase 2 (sideroblastic/hypochromic anemia) , ASB; 5-aminolevulinate synthase, erythroid-specific, mitochondrial; sideroblastic/hypochromic anemia; 5-aminolevulinic acid synthase; ALAS E; ALASE; ANH1; Delta aminolevulinate synthase; FLJ93603; OTTMUSP00000020679; XLSA; 5 @aminolevulinate synthase erythroid specific; 5 aminolevulinic acid synthase 2; 5-aminolevulinate synthase 2; 5-aminolevulinate synthase; Alas 2; ALAS; ALAS, erythroid; Aminolevulinic acid synthase 2, erythroid; ASB; Delta ALA synthase 2; Delta ALA synthetase; Delta aminolevulinate synthase 2; Erythroid specific ALAS; OTTHUMP00000023388; OTTHUMP00000023389; RP23-338A17.1; XLDPP; OTTHUMP00000204081; delta-ALA synthase 2; delta-ALA synthetase; 5-aminolevulinic acid synthase 2; delta-aminolevulinate synthase 2; XLEPP; ALAS-E; sau; cb1063; sauternes; si:dkey-24f17.4; 5-aminolevulinic acid syn

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