ALAS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | ALAS1, ALAS, ALAS3, ALASH, MIG4, ALAS-H, 5'-aminolevulinate synthase 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 125290; MGI: 87989; HomoloGene: 55478; GeneCards: ALAS1; OMA:ALAS1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Delta-aminolevulinate synthase 1 also known as ALAS1 is a protein that in humans is encoded by the ALAS1 gene.[5][6] ALAS1 is an aminolevulinic acid synthase.
Delta-aminolevulinate synthase catalyzes the condensation of glycine with succinyl-CoA to form delta-aminolevulinic acid. This nuclear-encoded mitochondrial enzyme is the first and rate-limiting enzyme in the mammalian heme biosynthetic pathway. There are 2 tissue-specific isozymes: a housekeeping enzyme encoded by the ALAS1 gene and an erythroid tissue-specific enzyme encoded by ALAS2.[6]
Mice lacking this gene exhibit embryonic lethality, indicating that ALAS is essential for early embryogenesis.[7]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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Porphyrin biosynthesis |
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Heme degradation tobile |
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This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it. |