Entrez gene ID | | 212 |
Official gene symbol | | ALAS2 |
Full name | | aminolevulinate, delta-, synthase 2 |
Aliases | | ,ALAS-E,ALASE,ANH1,ASB,FLJ93603,XLSA, |
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] |
Location | | Chromosome: X Locus: Xp11.21 |
Gene position | | 55057497 - 55035488 Map Viewer |
Gene orientation | | minus |
Gene size | | 22010 bp |
Gene sequence |
| |
OMIM ID | | 301300 |