EC Number   |
General Information |
Reference |
|---|
    4.1.1.90 | malfunction |
onset of mineralization in Abcc6-/-, Ggcx+/+ mice is delayed until between 3 and 4 months of age, suggesting that the genetic background plays a role in modifying the mineralization process. Mineralization in the Abcc6-/-, Ggcx+/- mice is accelerated in comparison with age-matched Abcc6-/-, Ggcx+/+ mice, with ca. 3fold difference at 3, 4, and 9 months of age |
705218 |
| 4.1.1.90 | physiological function |
characterization of specific domains of GGCX that exhibit structural rearrangements upon binding the high-affinity consensus propeptide pCon (AVFLSREQANQVLQRRRR). pCon binding is specific for monomeric GGCX-nanodiscs and promotes enhanced structural stability to the nanodisc-integrated complex while maintaining catalytic activity in the presence of carboxylation cosubstrates. Modifications in hydrogen exchange of GGCX are prominently observed in GGCX peptides 491-507 and 395-401 upon pCon association, consistent with sites for propeptide and glutamate binding |
747068 |
| 4.1.1.90 | physiological function |
functional GGCX mutations in all 15 exons do not occur in most calcium oxalate urolithiasis patients, thus no significant association between the low activity and mutation of GGCX in calcium oxalate urolithiasis |
704939 |
| 4.1.1.90 | physiological function |
genetic variation in GGCX influences the gamma carboxylation of vitamin K-dependent proteins, as measured by differences in percent undercarboxylated osteocalcin and proteins induced by vitamin K absence-factor II (PIVKA-II). Heterozygous carriers of GGCX rs10187424 and rs7568458 have significantly lower percent undercarboxylated osteocalcin relative to either homozygous group. No significant differences within GGCX genotype group for plasma phylloquinone. No significant associations of GGCX polymorphisms and PIVKA-II |
699704 |
| 4.1.1.90 | physiological function |
genetic variations in GGCX gene contributes to impaired metabolism of warfarin |
703270 |
| 4.1.1.90 | physiological function |
GGCX expressed in osteoblasts is critical for the maintenance of blood glucose and white adipose tissue. Osteoblast-specific conditional Ggcx-deficient mice exhibit altered metabolism compared with their controls. Serum glucose levels can be maintained with low amounts of insulin, and the weight of white adipose tissue significantly decreases |
746967 |
| 4.1.1.90 | physiological function |
GGCX mutations cause coagulation disorder and pseudoxanthoma elasticum. Two GGCX mutations from affected individuals (p. R83W and p.Q374X). GGCX is necessary for activation of both coagulation factors in the liver and matrix gla protein, which, in fully carboxylated form, is able to prevent ectopic mineralization |
701616 |
| 4.1.1.90 | physiological function |
relevance between the defect of GGCX and urolithasis. Decreased activity and production of GGCX between calcium oxalate urolithiasis patients and control patients. GGCX may play an important role in the formation of calcium oxalate. The decreased expression of GGCX may lead to the defect of activity, and may result in the declined ability of calcium oxalate of urinary prothrombin fragment 1 |
706879 |
| 4.1.1.90 | physiological function |
two novel splice site mutations in the GGCX gene, G to T transversion of the first nucleotide of intron 2 (c. 1358+1G-T) and an A to G transversion of the third nucleotide of intron 11 (c. 10363+3A-G) |
706075 |
| 4.1.1.90 | physiological function |
VKC maintains vitamin K levels and sustains the blood coagulation cascade |
716060 |
