Literature summary for 1.3.8.1 extracted from

Giurgiutiu, D.V.; Espinoza, L.M.; Wood, T.C.; DuPont, B.R.; Holden, K.R.
Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant (2008), J. Child Neurol., 23, 112-117.

Protein Variants

Protein Variants	Comment	Organism
additional information	coupled gene mutations G625A and C511T impair C4-C6 fatty acid metabolism and variably causes neonatal/infantile hypotonia with developmental delays	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms	Comment	Organism
short-chain acyl-CoA dehydrogenase	-	Homo sapiens

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Release 2023.1 (January 2023)