| content | ||||||||||||||||||||||||||||||||||||||
| Matrix Gla protein | |
|---|---|
| Symbol(s): | MGP |
| Genetic data | |
| Locus: | Chr. 12 p13.1-12.3 |
| Gene code: | MGP |
| Gene type: | protein coding |
| Protein Structure/Function | |
| Protein length: | 84 (Amino Acids) |
| Other | |
| Covalent modifications: | carboxylation |
| Medical/Biotechnological data | |
| Diseases: | Keutel syndrome |
| Database Links | |
| Entrez: | 4256 |
| OMIM: | 154870 |
| RefSeq: | NM_000900 |
| UniProt: | P08493 |
Matrix gla protein (MGP) is a protein found in numerous body tissues that requires vitamin K for its optimum function. It is present in bone (together with the related vitamin K-dependent protein osteocalcin), as well as in heart, kidney and lung. In bone, its production is increased by vitamin D.
Contents |
Genetics
The MGP was linked to the short arm of chromosome 12 in 1990.[1]
Physiology
MGP and osteocalcin are both calcium-binding proteins that may participate in the organisation of bone tissue. Both have glutamate residues that are post-translationally carboxylated by the enzyme gamma-glutamyl carboxylase in a reaction that requires Vitamin K hydroquinone. This process also occurs with a number of proteins involved in coagulation: prothrombin, factor VII, factor IX and factor X, protein C, protein S and protein Z.
Role in disease
Abnormalities in the MGP gene have been linked with Keutel syndrome, a rare condition characterised by abnormal calcium deposition in cartilage, peripheral stenosis of the pulmonary artery, and midfacial hypoplasia.[2]
Mice that lack MGP develop to term but die within two months as a result of arterial calcification which leads to blood-vessel rupture.[3]
References
- ^ Cancela L, Hsieh CL, Francke U, Price PA (1990). "Molecular structure, chromosome assignment, and promoter organization of the human matrix Gla protein gene". J. Biol. Chem. 265 (25): 15040–8. PMID 2394711.
- ^ Munroe PB, Olgunturk RO, Fryns JP, et al (1999). "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome". Nat. Genet. 21 (1): 142–4. doi:. PMID 9916809.
- ^ Luo G, Ducy P, McKee MD, et al (March 1997). "Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein". Nature 386 (6620): 78–81. doi:. PMID 9052783.
 |
This article on a gene on chromosome 12 is a stub. You can help Wikipedia by expanding it. |
