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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ALAS2-20-RE | 20 (40 μL) | 200 μL |  |
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| ALAS2-20-OR | 20 (40 μL) | 200 μL |  |
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| ALAS2-20-GO | 20 (40 μL) | 200 μL |  |
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| ALAS2-20-GR | 20 (40 μL) | 200 μL |  |
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| ALAS2-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2008]
Gene Symbol : ALAS2
Gene Name : 5'-aminolevulinate synthase 2
Chromosome : CHR X: 550,310,63-550,090,54
Locus : Xp11.21
Alt. Genes : SUGP2
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