GGCX è un gene codificato dal simbolo GGCX. Comunemente indicato anche come: Vitamin K-dependent gamma-carboxylase; Gamma-glutamyl carboxylase; Peptidyl-glutamate 4-carboxylase; Vitamin K gamma glutamyl carboxylase; GC. GGCX ha una massa di 87.56kDa, una lunghezza di amminoacidi di 758, ed è implicato nella malattia: Combined deficiency of vitamin K-dependent clotting factors 1; Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency.
Offriamo 8 anticorpi contro GGCX, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide.
Sommario di Entrez
This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent protein substrates have a propeptide that binds the enzyme, with carbon dioxide, dioxide, and reduced vitamin K acting as co-substrates. Vitamin K-dependent proteins affect a number of physiologic processes including blood coagulation, prevention of vascular calcification, and inflammation. Allelic variants of this gene have been associated with pseudoxanthoma elasticum-like disorder with associated multiple coagulation factor deficiency. Alternative splicing results in multiple transcript variants.
Coinvolgimento nella malattia
Combined deficiency of vitamin K-dependent clotting factors 1: VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K.
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency: Characterized by hyperlaxity of the skin involving the entire body. Important phenotypic differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity. Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well as their mineralization are slightly different from those in classic PXE.
Somiglianze di sequenza
Belongs to the vitamin K-dependent gamma-carboxylase family.
Posizione cellulare
Endoplasmic reticulum membrane.
