Matrix gla protein

From Wikipedia, the free encyclopedia

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.

1 Genetics
2 Physiology
3 Role in disease
4 References

[edit] Genetics

The MGP was linked to the short arm of chromosome 12 in 1990.^[1]

[edit] 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.

[edit] 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]

[edit] 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:10.1038/5102. 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:10.1038/386078a0. PMID 9052783.