MGP gene

matrix Gla protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Associates with the organic matrix of bone and cartilage. Thought to act as an inhibitor of bone formation.

From NCBI Gene:

  • Keutel syndrome

From UniProt:

Keutel syndrome (KTLS): An autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis neural hearing loss and midfacial hypoplasia. [MIM:245150]

Cytogenetic Location: 12p12.3, which is the short (p) arm of chromosome 12 at position 12.3

Molecular Location: base pairs 14,881,181 to 14,885,919 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12p12.3, which is the short (p) arm of chromosome 12 at position 12.3
  • GIG36
  • MGLAP
  • NTI