Literature summary extracted from

Vanakker, O.M.; Martin, L.; Gheduzzi, D.; Leroy, B.P.; Loeys, B.L.; Guerci, V.I.; Matthys, D; Terry, S.F.; Coucke, P.J.; Pasquali-Ronchetti, I.; De Paepe, A.
Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity (2007), J. Invest. Dermatol., 127, 581-587.

Application

EC Number	Application	Comment	Organism
4.1.1.90	medicine	six out of seven patients with Pseudoxanthoma Elasticum habor mutations in the GGCX gene (gamma-glutamyl carboxylase)	Homo sapiens

Protein Variants

EC Number	Protein Variants	Comment	Organism
4.1.1.90	additional information	six out of seven patients with Pseudoxanthoma Elasticum habor mutations in the GGCX gene (gamma-glutamyl carboxylase)	Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number	Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
4.1.1.90	additional information	Homo sapiens	enzyme important for gamma-carboxylation of gla-proteins	?	-	?

Organism

EC Number	Organism	UniProt	Comment	Textmining
4.1.1.90	Homo sapiens	P38435	-	-

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
4.1.1.90	additional information	enzyme important for gamma-carboxylation of gla-proteins	Homo sapiens	?	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
4.1.1.90	gamma-glutamyl carboxylase	-	Homo sapiens
4.1.1.90	GGCX	-	Homo sapiens

Cofactor

EC Number	Cofactor	Comment	Organism	Structure
4.1.1.90	vitamin K	-	Homo sapiens

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Release 2023.1 (January 2023)