GGCX Chromosome 2
Gamma-glutamyl carboxylase
Upload your DNA to see your personal genotypes for variants in GGCX.
What This Gene Does
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. [provided by RefSeq, Aug 2015]
Associated Conditions (14)
Inborn genetic diseases
Vitamin K-dependent clotting factors
combined deficiency of
type 1
GGCX-related disorder
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Uterine corpus endometrial carcinoma
Sarcoma
Cervical cancer
Thymoma
Nonpapillary renal cell carcinoma
Ovarian serous cystadenocarcinoma
Malignant tumor of esophagus
GGCX - Related Disorders
Key Variants
RS113962887
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1262224787
Conflicting classifications of pathogenicity
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Health Risk
RS1284965933
Conflicting classifications of pathogenicity
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Health Risk
RS141040739
Conflicting classifications of pathogenicity
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Health Risk
RS145056129
Conflicting classifications of pathogenicity
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Health Risk
RS146085955
Conflicting classifications of pathogenicity
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Health Risk
RS146930374
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147427088
Conflicting classifications of pathogenicity
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Health Risk
RS149039591
Conflicting classifications of pathogenicity
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Health Risk
RS149603998
Conflicting classifications of pathogenicity
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Health Risk
RS1691972995
Conflicting classifications of pathogenicity
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Health Risk
RS371622780
Conflicting classifications of pathogenicity
Vitamin K-dependent clotting factors, combined deficiency of, type 1
Health Risk
All Variants (60)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113962887 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1262224787 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS1284965933 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS141040739 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS145056129 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS146085955 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS146930374 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147427088 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS149039591 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS149603998 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS1691972995 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS371622780 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS374625413 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS374754358 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS536257863 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS56165933 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS61733104 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS61733105 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS751710756 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS758719852 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS766969458 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774751096 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS78504541 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, GGCX-related disorder, Inborn genetic diseases |
| RS78909830 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS886056379 | Health Risk | Conflicting classifications of pathogenicity | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS1692107154 | Health Risk | Likely pathogenic | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS2529675165 | Health Risk | Likely pathogenic | — |
| RS2529679431 | Health Risk | Likely pathogenic | — |
| RS768019203 | Health Risk | Likely pathogenic | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS772336725 | Health Risk | Likely pathogenic | — |
| RS1206452899 | Health Risk | Pathogenic | — |
| RS121909675 | Health Risk | Pathogenic | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS121909676 | Health Risk | Pathogenic | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS121909677 | Health Risk | Pathogenic | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
| RS121909678 | Health Risk | Pathogenic | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
| RS121909679 | Health Risk | Pathogenic | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
| RS121909680 | Health Risk | Pathogenic | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
| RS121909681 | Health Risk | Pathogenic | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
| RS121909682 | Health Risk | Pathogenic | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
| RS1346714219 | Health Risk | Pathogenic | — |
| RS1377815840 | Health Risk | Pathogenic | — |
| RS144699669 | Health Risk | Pathogenic | — |
| RS1691895200 | Health Risk | Pathogenic | — |
| RS1691898752 | Health Risk | Pathogenic | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |
| RS1691965570 | Health Risk | Pathogenic | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency |
| RS1692304617 | Health Risk | Pathogenic | — |
| RS2466128633 | Health Risk | Pathogenic | — |
| RS2466134556 | Health Risk | Pathogenic | — |
| RS2529667119 | Health Risk | Pathogenic | — |
| RS28928872 | Health Risk | Pathogenic | Vitamin K-dependent clotting factors, combined deficiency of, type 1 |