Title : Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.

Pub. Date : 2019 Jan 24

PMID : 30678654






1 Functional Relationships(s)
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1 The five novel ALAS2 truncation mutations had increased Vmax values for both succinyl-CoA and glycine substrates (1.4 to 5.6-fold over wild-type), while the Kms for both substrates were only modestly changed. Glycine 5'-aminolevulinate synthase 2 Homo sapiens