Matrix gla protein

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Matrix Gla protein
Identifiers
Symbols MGP ; MGLAP; NTI
External IDs OMIM154870 MGI96976 HomoloGene693 GeneCards: MGP Gene
Orthologs
Species Human Mouse
Entrez 4256 17313
Ensembl ENSG00000111341 ENSMUSG00000030218
UniProt P08493 P19788
RefSeq (mRNA) NM_000900 NM_008597
RefSeq (protein) NP_000891 NP_032623
Location (UCSC) Chr 12:
15.03 – 15.04 Mb
Chr 6:
136.87 – 136.88 Mb
PubMed search [1] [2]

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.

Genetics[edit]

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

Physiology[edit]

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[edit]

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[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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. 

External links[edit]