| ncRNA Symbol: | ALAS2 |
| Full Name: | 5'-aminolevulinate synthase 2 |
| Category: | mRNA |
| Synonyms: | ALAS-E|ALASE|ANH1|ASB|SIDBA1|XLDPP|XLEPP|XLSA |
| Chromosome: | chrX |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 55009055 | End Site(bp): | 55031064 |
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| Gene Summary: | 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] |
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