MGP (Matrix Gla Protein)
A key regulator of vascular calcification and bone metabolism
Gene Information Card
| Symbol | MGP |
|---|---|
| Full Name | Matrix Gla Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 12p12.3 |
| NCBI Gene ID | 4256 ncbi.nlm.nih.gov/gene/4256 |
| Ensembl ID | ENSG00000111341 |
| UniProt ID | P08493 |
| OMIM ID | 154870 |
| HGNC ID | 7060 |
| Aliases | MGLAP, GIG36 |
Description
The MGP gene encodes matrix Gla protein (MGP), a vitamin K-dependent protein that inhibits calcification of soft tissues, particularly blood vessels and cartilage. MGP is synthesized as a precursor and undergoes post-translational gamma-carboxylation of glutamic acid residues, which is essential for its calcium-binding and anti-calcific activity. It is expressed in various tissues including bone, cartilage, and vascular smooth muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Keutel syndrome | Loss-of-function mutations in MGP lead to abnormal calcification of cartilage and arterial walls, causing peripheral pulmonary stenosis, brachytelephalangism, and hearing loss. | OMIM #245150; multiple reports in ClinVar and literature |
| Vascular calcification | Reduced MGP expression or impaired gamma-carboxylation (e.g., vitamin K deficiency) promotes medial arterial calcification, increasing cardiovascular risk. | Association studies; functional evidence from MGP knockout mice |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone | 12.5 | Medium |
| Cartilage | 15.2 | Medium |
| Heart | 8.3 | Low |
| Artery | 10.1 | Medium |
| Lung | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 5.4 | Low expression |
| Aortic smooth muscle cells | 14.8 | Medium expression |
| Osteoblasts | 18.2 | High expression |
| Chondrocytes | 20.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon, likely loss of function |
| c.79C>T (p.Arg27*) | Nonsense | Rare | Premature stop, loss of function |
| c.373G>A (p.Gly125Ser) | Missense | Rare | Impaired gamma-carboxylation, reduced activity |
Mutation functional classification
Loss of Function (LOF)
Most MGP mutations associated with Keutel syndrome are loss-of-function, leading to reduced or absent protein activity.
Gain of Function (GOF)
No gain-of-function mutations reported for MGP.
Dominant Negative (DN)
No evidence of dominant-negative effects; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Vitamin K metabolism and gamma-carboxylation
• BMP signaling pathway (negative regulation)
• Vascular smooth muscle contraction
Protein Summary
Matrix Gla protein (MGP) is a 103-amino-acid secreted protein that contains 5 gamma-carboxyglutamic acid (Gla) residues, which are critical for its calcium-binding and anti-calcification functions. MGP is synthesized as a preproprotein and cleaved to the mature form. It inhibits BMP2/4 signaling and prevents ectopic calcification in arteries and cartilage. MGP deficiency leads to Keutel syndrome, characterized by abnormal calcification of soft tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MGP Knockout HEK293 Cell Line | EDJ-KQ5209 | Human | 4256 | Details Get a Quote |
| MGP Knockout HeLa Cell Line | EDJ-KQ28209 | Human | 4256 | Details Get a Quote |
| MGP Knockout A-549 Cell Line | EDJ-KQ62360 | Human | 4256 | Details Get a Quote |
| MGP Knockout HCT 116 Cell Line | EDJ-KQ70830 | Human | 4256 | Details Get a Quote |
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