Literature summary 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.

Protein Variants

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

Organism

EC Number	Organism	UniProt	Comment	Textmining
1.8.1.4	Homo sapiens	-	-	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining
1.8.1.4	fibroblast	-	Homo sapiens	-
1.8.1.4	skin	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

EC Number	Synonyms	Comment	Organism
1.8.1.4	DLD	-	Homo sapiens

Cofactor

EC Number	Cofactor	Comment	Organism	Structure
1.8.1.4	NAD+	-	Homo sapiens

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Release 2023.1 (January 2023)