Literature summary for 2.7.1.67 extracted from

Mohamed, M.; Gardeitchik, T.; Balasubramaniam, S.; Guerrero-Castillo, S.; Dalloyaux, D.; van Kraaij, S.; Venselaar, H.; Hoischen, A.; Urban, Z.; Brandt, U.; Al-Shawi, R.; Simons, J.P.; Frison, M.; Ngu, L.H.; Callewaert, B.; Spelbrink, H.; Kallemeijn, W.W.; Aerts, J.M.F.G.; Waugh, M.G.; Morava, E.; We, W.e.v.
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa (2020), J. Inherit. Metab. Dis., 43, 1382-1391 .

Protein Variants

Protein Variants	Comment	Organism
R275W	the mutation is associated with inherited cutis laxa and leads to a large reduction in enzyme activity	Homo sapiens

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + 1-phosphatidyl-1D-myo-inositol	Homo sapiens	-	ADP + 1-phosphatidyl-1D-myo-inositol 4-phosphate	-	?

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue	Comment	Organism	Textmining
fibroblast	-	Homo sapiens	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + 1-phosphatidyl-1D-myo-inositol	-	Homo sapiens	ADP + 1-phosphatidyl-1D-myo-inositol 4-phosphate	-	?

Synonyms	Comment	Organism
phosphatidylinositol 4-kinase type 2-alpha	-	Homo sapiens
phosphatidylinositol 4-kinase type IIalpha	-	Homo sapiens
PI 4-kinase	-	Homo sapiens
PI4K2A	-	Homo sapiens

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Release 2023.1 (January 2023)