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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GGCX
gamma-glutamyl carboxylase
Chromosome 2 Β· 2p11.2
NCBI Gene: 2677Ensembl: ENSG00000115486.13HGNC: HGNC:4247UniProt: A0A8I5QJA4
142PubMed Papers
22Diseases
1Drugs
53Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
vitamin K metabolic processnegative regulation of neurotransmitter secretiongamma-glutamyl carboxylase activityendoplasmic reticulum membranebody skin hyperlaxity due to vitamin K-dependent coagulation factor deficiencyvitamin K-dependent clotting factors, combined deficiency of, type 1Hereditary combined deficiency of vitamin K-dependent clotting factorsblood coagulation disease
✦AI Summary

GGCX (gamma-glutamyl carboxylase) is a vitamin K-dependent enzyme that catalyzes the post-translational carboxylation of glutamate residues to gamma-carboxyglutamate (Gla) residues in multiple substrate proteins 1. The enzyme couples this carboxylation with concurrent oxidation of vitamin K hydroquinone to vitamin K epoxide, with both reactions occurring in the same active site 1. Structurally, GGCX is a transmembrane protein whose propeptide-binding domain stabilizes critical transmembrane helices to create the vitamin K-binding pocket, and cholesterol interactions regulate its cellular protein levels 1. GGCX catalyzes gamma-carboxylation of essential coagulation factors (F2, F7, F9, F10) and anticoagulants like protein C, which are critical for hemostasis 2. The enzyme also carboxylates osteocalcin for bone metabolism and matrix Gla protein for calcium homeostasis 1. Notably, GGCX can undergo membrane topology inversion to carboxylate the antiviral signaling protein MAVS in the cytoplasm, enhancing antiviral interferon responses 3. Clinically, GGCX mutations cause combined vitamin K-dependent clotting factor deficiency (VKCFD1) with variable penetrance and pleiotrophic manifestations affecting skin, eye, cardiac, and bone tissues 4. GGCX variants are associated with pulmonary arterial hypertension with moderate evidence 5, accounting for approximately 0.9% of idiopathic PAH cases 6. GGCX polymorphisms show minimal impact on warfarin dosing compared to VKORC1 variants 7.

Sources cited
1
GGCX catalyzes carboxylation of glutamate to gamma-carboxyglutamate coupled with vitamin K oxidation; structural details of substrate binding, active site mechanism, and cholesterol regulation
PMID: 39880952
2
GGCX mediates vitamin K-dependent carboxylation of coagulation factors and osteocalcin
PMID: 17073445
3
GGCX undergoes membrane topology inversion to carboxylate MAVS in cytoplasm for antiviral defense and vitamin K influences viral susceptibility
PMID: 40608933
4
GGCX mutations cause vitamin K-dependent clotting factor deficiency with variable phenotypes affecting skin, eye, cardiac, and bone tissues; genotype-phenotype correlations
PMID: 28125048
5
GGCX variants associated with pulmonary arterial hypertension with moderate evidence for gene-disease relationship
PMID: 37422716
6
GGCX identified as novel risk gene for idiopathic PAH accounting for approximately 0.9% of cases with role in vascular hemodynamics
PMID: 31727138
7
GGCX polymorphisms have minimal effect on warfarin dosage compared to VKORC1
PMID: 27262824
Disease Associationsβ“˜22
body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiencyOpen Targets
0.77Strong
vitamin K-dependent clotting factors, combined deficiency of, type 1Open Targets
0.74Strong
Hereditary combined deficiency of vitamin K-dependent clotting factorsOpen Targets
0.70Moderate
blood coagulation diseaseOpen Targets
0.37Weak
congenital vitamin K-dependent coagulation factors deficiencyOpen Targets
0.37Weak
coronary artery diseaseOpen Targets
0.32Weak
genetic disorderOpen Targets
0.19Weak
pulmonary arterial hypertensionOpen Targets
0.19Weak
prostate carcinomaOpen Targets
0.19Weak
benign prostatic hyperplasiaOpen Targets
0.18Weak
myocardial infarctionOpen Targets
0.16Weak
angina pectorisOpen Targets
0.15Weak
coronary atherosclerosisOpen Targets
0.15Weak
Myocardial IschemiaOpen Targets
0.15Weak
neuroinflammatory disorderOpen Targets
0.14Weak
prostate cancerOpen Targets
0.14Weak
Abnormal bleedingOpen Targets
0.14Weak
ThrombocytopeniaOpen Targets
0.14Weak
acute myeloid leukemiaOpen Targets
0.12Weak
heart diseaseOpen Targets
0.11Weak
Combined deficiency of vitamin K-dependent clotting factors 1UniProt
Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiencyUniProt
Pathogenic Variants53
NM_000821.7(GGCX):c.763G>A (p.Val255Met)Pathogenic
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency|not provided|Vitamin K-dependent clotting factors, combined deficiency of, type 1;Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency|GGCX-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 255
NM_000821.7(GGCX):c.938_939del (p.Pro313fs)Pathogenic
not provided|Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, type 1
β˜…β˜…β˜†β˜†2026β†’ Residue 313
NM_000821.7(GGCX):c.944G>A (p.Trp315Ter)Pathogenic
not provided|GGCX-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 315
NM_000821.7(GGCX):c.2110C>T (p.Arg704Ter)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 704
NM_000821.7(GGCX):c.610C>T (p.Arg204Cys)Likely pathogenic
not provided|Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, type 1
β˜…β˜…β˜†β˜†2025β†’ Residue 204
NM_000821.7(GGCX):c.469T>C (p.Trp157Arg)Pathogenic
not provided|Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 157
NM_000821.7(GGCX):c.2017C>T (p.Arg673Ter)Pathogenic
not provided|GGCX-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 673
NM_000821.7(GGCX):c.1297_1298del (p.Gln433fs)Pathogenic
GGCX-related disorder|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 433
NM_000821.7(GGCX):c.1306C>T (p.Arg436Ter)Pathogenic
not provided|GGCX-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 436
NM_000821.7(GGCX):c.890-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000821.7(GGCX):c.2047del (p.Arg683fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 683
NM_000821.7(GGCX):c.816dup (p.Asp273Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 273
NM_000821.7(GGCX):c.826A>T (p.Arg276Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 276
NM_000821.7(GGCX):c.1915C>T (p.Gln639Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 639
NM_000821.7(GGCX):c.1450C>T (p.Pro484Ser)Likely pathogenic
Vitamin K-dependent clotting factors, combined deficiency of, type 1
β˜…β˜†β˜†β˜†2025β†’ Residue 484
NM_000821.7(GGCX):c.1888+2T>ALikely pathogenic
Hepatocellular carcinoma|not provided
β˜…β˜†β˜†β˜†2025
NM_000821.7(GGCX):c.247C>T (p.Arg83Trp)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 83
NM_000821.7(GGCX):c.1440-195_1716delPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000821.7(GGCX):c.1635_1636insCT (p.Glu546fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 546
NM_000821.7(GGCX):c.1156-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Drug Targets1
ANISINDIONEApproved
Vitamin K-dependent gamma-carboxylase inhibitor
blood coagulation disease
Related Genes
CYP2C9Protein interaction97%F2Protein interaction97%F7Protein interaction97%F9Protein interaction97%F10Protein interaction97%VKORC1L1Protein interaction95%
Tissue Expression6 tissues
Liver
100%
Lung
29%
Ovary
22%
Heart
22%
Brain
16%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
GGCXCYP2C9F2F7F9F10VKORC1L1
PROTEIN STRUCTURE
Preparing viewer…
PDB9BUR Β· 2.95 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.89LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.72 [0.58–0.89]
RankingsWhere GGCX stands among ~20K protein-coding genes
  • #3,222of 20,598
    Most Researched142 Β· top quartile
  • #905of 1,025
    FDA-Approved Drug Targets1
  • #1,276of 5,498
    Most Pathogenic Variants53 Β· top quartile
  • #7,937of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedGGCX
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Structure and mechanism of vitamin-K-dependent Ξ³-glutamyl carboxylase.
PMID: 39880952
Nature Β· 2025
1.00
2
GGCX promotes Eurasian avian-like H1N1 swine influenza virus adaption to interspecies receptor binding.
PMID: 39809757
Nat Commun Β· 2025
0.90
3
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
PMID: 37422716
Genet Med Β· 2023
0.80
4
Membrane topology inversion of GGCX mediates cytoplasmic carboxylation for antiviral defense.
PMID: 40608933
Science Β· 2025
0.70
5
Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.
PMID: 31727138
Genome Med Β· 2019
0.60