靶标:
ALAS1
产品别名:
ALAS; ALAS-H; ALAS3; ALASH; MIG4; ALAS1; 5'-aminolevulinate synthase 1; 5'-aminolevulinate synthase 1; 5-aminolevulinate synthase, non-specific, mitochondrial; 5-aminolevulinate synthase, nonspecific, mitochondrial; 5-aminolevulinic acid synthase 1; aminolevulinate, delta-, synthase 1; delta-ALA synthase 1; delta-aminolevulinate synthase 1; migration-inducing protein 4; 5-氨基乙酰丙酸合酶1; 氨乙酰丙酸δ合酶1(ALAS1);
背景信息:
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],