Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Gamma-glutamyl carboxylase

The gene encodes an enzyme that is responsible for posttranslational modification of a vitamin K-dependent protein. Mutations of this gene result in bleeding disorders as seen durin wafarin medication. Coagulation factors II, VII, IX, and X are reduced.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Combined deficiency of vitamin K-dependent clotting factors type 1
GGCX
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
GGCX

References:

1.

Mutucumarana VP et al. (2000) Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase.

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2.

Spronk HM et al. (2000) Novel mutation in the gamma-glutamyl carboxylase gene resulting in congenital combined deficiency of all vitamin K-dependent blood coagulation factors.

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3.

Rost S et al. (2004) Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors.

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4.

Brenner B et al. (1990) Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants.

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5.

Brenner B et al. (1998) A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of all vitamin K-dependent blood coagulation factors.

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Update: Sept. 26, 2018