Literature summary for 1.8.1.4 extracted from

Odievre, M.H.; Chretien, D.; Munnich, A.; Robinson, B.H.; Dumoulin, R.; Masmoudi, S.; Kadhom, N.; Roetig, A.; Rustin, P.; Bonnefont, J.P.
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency (2005), Hum. Mutat., 25, 323-324.

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Protein Variants

Protein Variants	Comment	Organism
A1444G	substitution located in exon 13 leading to 20% of wild type activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-
skin	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
dihydrolipoamide + NAD+	-	Homo sapiens	lipoamide + NADH + H+	-	?

Synonyms

Synonyms	Comment	Organism
DLD	-	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
NAD+	-	Homo sapiens

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Release 2023.1 (January 2023)