MGP Chromosome 12
Matrix Gla protein
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What This Gene Does
This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
Gla domain containing
Locus Type
gene with protein product
Location
12p12.3
Ensembl
ENSG00000111341
Associated Conditions (7)
Keutel syndrome
MGP-related disorder
Spondyloepiphyseal dysplasia
Short palm
Short distal phalanx of finger
Platyspondyly
Short stature
Key Variants
RS149084241
Conflicting classifications of pathogenicity
Keutel syndrome, Keutel syndrome
Health Risk
RS151158281
Conflicting classifications of pathogenicity
Keutel syndrome, MGP-related disorder, Keutel syndrome
Health Risk
RS1555094473
Conflicting classifications of pathogenicity
Spondyloepiphyseal dysplasia, Short palm, Short distal phalanx of finger
Health Risk
RS886049107
Conflicting classifications of pathogenicity
Keutel syndrome, Keutel syndrome
Health Risk
RS1191773234
Likely pathogenic
Health Risk
RS112518413
Pathogenic
Keutel syndrome, Keutel syndrome
Health Risk
RS730880321
Pathogenic
Keutel syndrome, Keutel syndrome
Health Risk
RS730880322
Pathogenic
Keutel syndrome, Keutel syndrome
Health Risk
RS111320759
Pathogenic/Likely pathogenic
Keutel syndrome, Keutel syndrome
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149084241 | Health Risk | Conflicting classifications of pathogenicity | Keutel syndrome, Keutel syndrome |
| RS151158281 | Health Risk | Conflicting classifications of pathogenicity | Keutel syndrome, MGP-related disorder, Keutel syndrome |
| RS1555094473 | Health Risk | Conflicting classifications of pathogenicity | Spondyloepiphyseal dysplasia, Short palm, Short distal phalanx of finger |
| RS886049107 | Health Risk | Conflicting classifications of pathogenicity | Keutel syndrome, Keutel syndrome |
| RS1191773234 | Health Risk | Likely pathogenic | — |
| RS112518413 | Health Risk | Pathogenic | Keutel syndrome, Keutel syndrome |
| RS730880321 | Health Risk | Pathogenic | Keutel syndrome, Keutel syndrome |
| RS730880322 | Health Risk | Pathogenic | Keutel syndrome, Keutel syndrome |
| RS111320759 | Health Risk | Pathogenic/Likely pathogenic | Keutel syndrome, Keutel syndrome |