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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.
5'-aminolevulinate synthase 2; 5-aminolevulinate synthase 2; 5-aminolevulinate synthase, erythroid-specific, mitochondrial; 5-aminolevulinic acid synthase 2; ALAS; Alas2; Alas-2; alas2 protein; Alase; ALAS-E; Aminolevulinate synthase 2, delta; aminolevulinate synthase erythroid specific isoform; aminolevulinate, delta-, synthase 2; aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia); aminolevulinate, delta-, synthetase 2; aminolevulinic acid synthase 2, erythroid; ANH1; ASB; cb1063; Delta-ALA synthase 2; delta-ALA synthetase; delta-ALA synthetase 2; delta-aminolevulinate synthase 2; erythroid aminolevulinate synthase; erythroid-specific ALAS; erythroid-specific delta-aminolevulinate synthase ALAS-E; heme biosynthetic enzyme; PRO2399; RP5-884M20.1; sau; sauternes; si:dkey-24f17.4; SIDBA1; XLDPP; XLEPP; XLSA
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100 µg
100 µL
100 µL
100 µL
100 µL
100 µL
150 µL
100 µg
100 µg
100 µg
100 µg
100 µL
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