Home > Gene Browser > GGCX

GGCX

Synonyms
VKCFD1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
22
Likely pathogenic
0
VUS
6,865
Likely benign
5,601
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on GGCX gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
50%
Abnormality of the ear
31.8%
Abnormality of the nervous system
31.8%
Abnormality of head or neck
27.3%
Abnormality of limbs
9.1%
Abnormality of the cardiovascular system
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the eye
9.1%
Abnormality of the integument
9.1%
Growth abnormality
9.1%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of the genitourinary system
4.5%
Abnormality of the immune system
4.5%
Abnormality of the respiratory system
4.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes