Article
Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
Journal of inherited metabolic disease - 1 Jan 2021
Velasco Kelly, St-Louis Johanna L, Hovland Henrikke N, Thompson Nels, Ottesen Åsta, Choi Man Hung, Pedersen Line, Njølstad Pål R, Arnesen Thomas, Fjeld Karianne, Aukrust Ingvild, Myklebust Line M, Molven Anders
Abstract excerpt
Short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD), encoded by the HADH gene, is a ubiquitously expressed mitochondrial enzyme involved in fatty acid oxidation. This protein also plays a role in insulin secretion as recessive HADH mutations cause congenital hyperinsulinism of infancy (CHI) via loss of an inhibitory interaction with glutamate dehydrogenase (GDH). Here, we present a functional evaluation of 16...
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