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Article

Elucidating the Role of Human ALAS2 C-terminal Mutations Resulting in Loss of Function and Disease.

Biochemistry - 2 Jul 2024

Taylor Jessica L, Ayres-Galhardo Pedro H, Brown Breann L

Abstract excerpt

The conserved enzyme aminolevulinic acid synthase (ALAS) initiates heme biosynthesis in certain bacteria and eukaryotes by catalyzing the condensation of glycine and succinyl-CoA to yield aminolevulinic acid. In humans, the ALAS isoform responsible for heme production during red blood cell development is the erythroid-specific ALAS2 isoform. Owing to its essential role in erythropoiesis, changes in human ALAS2...

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Share to Anemia, Sideroblastic
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Source

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Identifiers

PMID: 38888931
DOI: 10.1021/acs.biochem.4c00066
PMCID: PMC11223264

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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