Aliases for ALAS1 Gene
External Ids for ALAS1 Gene
Previous HGNC Symbols for ALAS1 Gene
Previous GeneCards Identifiers for ALAS1 Gene
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]
GeneCards Summary for ALAS1 Gene
ALAS1 (5'-Aminolevulinate Synthase 1) is a Protein Coding gene. Diseases associated with ALAS1 include pyridoxine-responsive sideroblastic anemia and acute porphyria. Among its related pathways are Organelle biogenesis and maintenance and Metabolism. GO annotations related to this gene include pyridoxal phosphate binding and 5-aminolevulinate synthase activity. An important paralog of this gene is ALAS2.