{"symbol":"ALAS1","synonyms":["ALASH","ALAS-H","MIG4","ALAS3","ALAS"],"name":"5\u0027-aminolevulinate synthase 1","description":"This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]","ncbiEntrezGeneId":211,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/211","proteins":[{"symbol":"HEM1_HUMAN","href":"/api/1.0/protein/HEM1_HUMAN"}],"hgncRootFamilies":[]}