- Matrix gla protein
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Matrix Gla protein Identifiers Symbols MGP; MGLAP; NTI External IDs OMIM: 154870 MGI: 96976 HomoloGene: 693 GeneCards: MGP Gene Gene Ontology Molecular function • extracellular matrix structural constituent
• calcium ion binding
• structural constituent of boneCellular component • extracellular region
• proteinaceous extracellular matrix
• extracellular matrixBiological process • cartilage condensation
• ossification
• multicellular organismal development
• cell differentiation
• regulation of bone mineralizationSources: Amigo / QuickGO Orthologs Species Human Mouse Entrez 4256 17313 Ensembl ENSG00000111341 ENSMUSG00000030218 UniProt P08493 P19788 RefSeq (mRNA) NM_000900.3 NM_008597.3 RefSeq (protein) NP_000891.2 NP_032623.1 Location (UCSC) Chr 12:
15.03 – 15.04 MbChr 6:
136.82 – 136.82 MbPubMed 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.
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. http://www.jbc.org/cgi/reprint/265/25/15040.
- ^ 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.
External links
Extracellular matrix Fibril formingOtherFACIT: type IX (COL9A1, COL9A2, COL9A3) · type XII (COL12A1) · COL14A1 · COL16A1 · COL19A1 · COL20A1 · COL21A1 · COL22A1
basement membrane: type IV (COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6)
multiplexin: COL15A1 · type XVIII (COL18A1, Endostatin)
transmembrane: COL13A1 · COL17A1 · COL23A1 · COL25A1
other: type VI (COL6A1, COL6A2, COL6A3) · type VII (COL7A1) · type VIII (COL8A1, COL8A2) · type X (COL10A1) · type XI (COL11A1, COL11A2) · COL27A1 · COL28A1 · COL29A1OtherALCAM · Elastin (Tropoelastin) · Vitronectin · FRAS1 · FREM2 · Decorin · FAM20C · ECM1 · Matrix gla protein · Tectorin (TECTA, TECTB)Other see also diseases
B proteins: BY STRUCTURE: membrane, globular (en, ca, an), fibrousCategories:- Human proteins
- Proteins
- Genes on chromosome 12
- Chromosome 12 gene stubs
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