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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for ALAS2 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID212
Official gene symbolALAS2
Full nameaminolevulinate, delta-, synthase 2
Aliases,ALAS-E,ALASE,ANH1,ASB,FLJ93603,XLSA,
Gene summaryThe 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]
LocationChromosome: X   Locus: Xp11.21
Gene position55057497 - 55035488  Map Viewer
Gene orientationminus
Gene size22010 bp
Gene sequence
OMIM ID301300