Matrix Gla (MGP) ELISA Kit for Human

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]

MGP: Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation. Defects in MGP are the cause of Keutel syndrome (KS). KS is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia. Belongs to the osteocalcin/matrix Gla protein family.

Protein type: Extracellular matrix; Secreted; Secreted, signal peptide

Chromosomal Location of Human Ortholog: 12p12.3

Cellular Component: extracellular exosome; extracellular matrix; proteinaceous extracellular matrix

Molecular Function: calcium ion binding; extracellular matrix structural constituent; protein binding; structural constituent of bone

Biological Process: cartilage condensation; cell differentiation; ossification; regulation of bone mineralization

Disease: Keutel Syndrome