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Article

The Role of GRP and MGP in the Development of Non-Hemorrhagic VKCFD1 Phenotypes.

International journal of molecular sciences - 12 Jan 2022

Ghosh Suvoshree, Oldenburg Johannes, Czogalla-Nitsche Katrin J

Abstract excerpt

Vitamin K dependent coagulation factor deficiency type 1 (VKCFD1) is a rare hereditary bleeding disorder caused by mutations in γ-Glutamyl carboxylase (GGCX) gene. The GGCX enzyme catalyzes the γ-carboxylation of 15 different vitamin K dependent (VKD) proteins, which have function in blood coagulation, calcification, and cell signaling. Therefore, in addition to bleedings, some VKCFD1 patients develop diverse...

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Identifiers

PMID: 35054981
DOI: 10.3390/ijms23020798
PMCID: PMC8775833

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