Literature summary for 3.1.3.43 extracted from

Cameron, J.M.; Maj, M.; Levandovskiy, V.; Barnett, C.P.; Blaser, S.; Mackay, N.; Raiman, J.; Feigenbaum, A.; Schulze, A.; Robinson, B.H.
Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype (2009), Hum. Genet., 125, 319-326.

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Protein Variants

Protein Variants	Comment	Organism
E93X	the nonsense mutation in the PDP1 gene shows a complete absence of isoform PDP1 protein in mitochondria, PDP2 can compensate for loss of PDP1 protein in a null patient	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9P0J1	-	-
Homo sapiens	Q9P2J9	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Synonyms

Synonyms	Comment	Organism
PDP1	isoform	Homo sapiens
PDP2	isoform	Homo sapiens
pyruvate dehydrogenase phosphatase	-	Homo sapiens

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Release 2023.1 (January 2023)