Aminolevulinic acid synthase

The δ - Aminolävulinatsynthase ( δ - ALAS ) is a mitochondrial enzyme that is found in hepatocytes and erythroblasts. There are two isoenzymes, a ubiquitous ( Gen: ALAS1 ) and one that is specific for erythroblasts ( Gen: ALAS2 ) is. The enzyme catalyzes the reaction of succinyl-CoA from the citric acid cycle with the amino acid glycine to δ - aminolevulinate with elimination of CO2. This reaction is the rate-limiting step of heme biosynthesis represents the reaction is dependent on pyridoxal phosphate. The δ - Aminolävulinatsynthase is inhibited by heavy metals such as lead and by heme itself as an end product of the heme biosynthetic pathway.

A defect of the ALAS2 gene results in a (very rare ) chromosome X-linked sideroblastic anemia. This leads to an accumulation of iron in the mitochondria of the bone marrow cells.

Protein isoform Human Genome Organisation Transferase Erythropoiesis Isozyme
226393
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