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:
Related Diseases:
References:
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Brenner B et al. (1990) Hereditary deficiency of all vitamin K-dependent procoagulants and anticoagulants.
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2. |
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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3. |
Mutucumarana VP et al. (2000) Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase.
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4. |
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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5. |
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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6. |
Orphanet article
Orphanet ID 122083
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7. |
NCBI article
NCBI 2677
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8. |
OMIM.ORG article
Omim 137167
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9. |
Wikipedia article
Wikipedia EN (Gamma-glutamyl_carboxylase)
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Update: Aug. 14, 2020