5-aminolevulinate synthase 1 (mitochondrial) (ALAS1)

ALAS1 is the first and rate-limiting enzyme of the heme biosynthetic pathway in non-erythroid tissues, catalyzing pyridoxal 5'-phosphate (PLP)-dependent condensation of glycine and succinyl-CoA to produce δ-aminolevulinic acid[1][2][6]. It is encoded on human chromosome 3 and ubiquitously expressed; its function is essential for heme production, a vital cofactor in oxygen transport, metabolism, and detoxification enzymes. Deficiency in ALAS1 leads to impaired heme synthesis and can be fatal in developmental stages, while dysregulation can contribute to porphyria, though direct disease linkage in humans is less well-characterized compared to ALAS2[1][2][5][6].

Other names

Delta-aminolevulinate synthase 1Aminolevulinic acid synthase 1ALA synthase 1ALAS1 (gene/protein)Non-specific aminolevulinate synthase (mitochondrial)

Porphyria therapies (such as hemin) act by feedback inhibition of heme biosynthesis; experimental approaches may target gene/protein expression/PLP cofactor binding