Synonyms: 5 aminolevulinate synthase ,5 aminolevulinate synthase nonspecific mitochondrial,5 aminolevulinic acid synthase,5-aminolevulinate synthase,5-aminolevulinic acid synthase 1,Alas 1,ALAS 3,ALAS,ALAS H,ALAS HOUSEKEEPING TYPE,ALAS N,ALAS-H,alaS1,ALAS3,ALASH,Aminolevulinate delta synthase 1,Aminolevulinic acid synthase 1,Delta ALA synthetase,Delta aminolevulinate synthase,Delta-ALA synthase 1,Delta-aminolevulinate synthase 1,HEM1,MIG 4,MIG4,Migration inducing protein 4,mitochondrial,nonspecific
Background: 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.