{"symbol":"ALAS2","synonyms":["ASB","ALASE","ANH1","XLEPP","ALAS-E","SIDBA1","XLSA","XLDPP"],"name":"5\u0027-aminolevulinate synthase 2","description":"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]","ncbiEntrezGeneId":212,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/212","proteins":[{"symbol":"HEM0_HUMAN","href":"/api/1.0/protein/HEM0_HUMAN"}],"hgncRootFamilies":[]}