ALAS1, Official Symbol ALAS1provided by HGNC Official Full Name 5'-aminolevulinate synthase 1provided by HGNC Primary source HGNC:HGNC:396 See related Ensembl:ENSG00000023330 MIM:125290; AllianceGenome:HGNC:396 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALAS; MIG4; ALAS3; ALASH; ALAS-H Summary 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] Expression Biased expression in adrenal (RPKM 297.6), liver (RPKM 180.6) and 9 other tissues See more Orthologs mouse all