ALAS1

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]

5'-Aminolevulinate Synthase 1

Erythrocyte development Source: GO_Central
Heme biosynthetic process Source: GO_Central
Hemoglobin biosynthetic process Source: GO_Central
Mitochondrion organization Source: Reactome
Protoporphyrinogen IX biosynthetic process Source: UniProtKB-UniPathway
Regulation of metabolic process Source: Reactome
Response to hypoxia Source: GO_Central

Mitochondrion matrix