GGCX

Chr 2p11.2

gamma-glutamyl carboxylase

Aliases:: VKCFD1
MANE:: ENST00000233838.9

OMIM: 137167 ↗NCBI: 2677 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

GGCX · P38435

v62025-08-01

Predicted Aligned Error matrix for GGCX — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.0/ 100

Confident

758 residues

Confidence breakdown

Very high(≥ 90)64%
Confident(70–90)26%
Low(50–70)3%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Combined vitamin K-dependent clotting factor deficiency
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders
BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
0.75
vitamin K-dependent clotting factors, combined deficiency of, type 1
0.75
Hereditary combined deficiency of vitamin K-dependent clotting factors
0.71
blood coagulation disease
0.37
congenital vitamin K-dependent coagulation factors deficiency
0.37
coronary artery disorder
0.34
prostate carcinoma
0.27
benign prostatic hyperplasia
0.23
hereditary disease
0.19
pulmonary arterial hypertension
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Vitamin K-dependent gamma-carboxylase

Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant epoxidation of vitamin K hydroquinone to vitamin K epoxide (PubMed:17073445, PubMed:39880952, PubMed:39880037). Couples epoxidation and carboxylation in the same active site (PubMed:39880952, PubMed:39880037). Catalyzes gamma-carboxylation of blood coagulation factors (F2, F7, F9 and F10) and anticoagulants such as PROC, which are essential for thrombosis(PubMed:17073445, PubMed:39880037). Catalyzes gamma-carboxylation of osteocalcin/BGLAP, which is essential for bone metabolism (PubMed:17073445, PubMed:39880952). Catalyzes gamma-carboxylation of matrix Gla protein (MGP) and other transmembrane gamma-Gla proteins such as PRRG2, which are essential for calcium homeostasis and haemostasis (PubMed:17073445, PubMed:39880037)