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Velasco Pinto et al., 2021 - Google Patents

Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function …

Velasco Pinto et al., 2021

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Document ID
12785520488167374640
Author
Velasco Pinto K
St-Louis J
Hovland H
Thompson N
Ottesen
Choi M
Pedersen L
Njølstad P
Arnesen T
Fjeld K
Aukrust I
Myklebust L
Molven A
Publication year

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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 …
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