ALAS2, Official Symbol ALAS2provided by HGNC Official Full Name 5'-aminolevulinate synthase 2provided by HGNC Primary source HGNC:HGNC:397 See related Ensembl:ENSG00000158578 MIM:301300; AllianceGenome:HGNC:397 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASB; ANH1; XLSA; ALASE; XLDPP; XLEPP; ALAS-E; SIDBA1 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] Expression Restricted expression toward bone marrow (RPKM 181.6) See more Orthologs mouse all