MMP20
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Matrix metallopeptidase 20 (enamelysin), also known as MMP20, is a human gene.[1]
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and so the protein is thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with Amelogenesis imperfecta. This gene is part of a cluster of MMP genes that localizes to chromosome 11q22.3.[1]
References
Further reading
- Nagase H, Woessner JF (1999). "Matrix metalloproteinases". J. Biol. Chem. 274 (31): 21491–4. PMID 10419448.
- Bartlett JD, Simmer JP (2000). "Proteinases in developing dental enamel". Crit. Rev. Oral Biol. Med. 10 (4): 425–41. PMID 10634581.
- Pendás AM, Santamaría I, Alvarez MV; et al. (1997). "Fine physical mapping of the human matrix metalloproteinase genes clustered on chromosome 11q22.3". Genomics. 37 (2): 266–8. PMID 8921407.
- Llano E, Pendás AM, Knäuper V; et al. (1998). "Identification and structural and functional characterization of human enamelysin (MMP-20)". Biochemistry. 36 (49): 15101–8. doi:10.1021/bi972120y. PMID 9398237.
- Stracke JO, Fosang AJ, Last K; et al. (2000). "Matrix metalloproteinases 19 and 20 cleave aggrecan and cartilage oligomeric matrix protein (COMP)". FEBS Lett. 478 (1–2): 52–6. PMID 10922468.
- Terp GE, Christensen IT, Jørgensen FS (2000). "Structural differences of matrix metalloproteinases. Homology modeling and energy minimization of enzyme-substrate complexes". J. Biomol. Struct. Dyn. 17 (6): 933–46. PMID 10949161.
- Väänänen A, Srinivas R, Parikka M; et al. (2001). "Expression and regulation of MMP-20 in human tongue carcinoma cells". J. Dent. Res. 80 (10): 1884–9. PMID 11706946.
- Väänänen A, Tjäderhane L, Eklund L; et al. (2005). "Expression of collagen XVIII and MMP-20 in developing teeth and odontogenic tumors". Matrix Biol. 23 (3): 153–61. doi:10.1016/j.matbio.2004.04.003. PMID 15296943.
- Kim JW, Simmer JP, Hart TC; et al. (2006). "MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta". J. Med. Genet. 42 (3): 271–5. doi:10.1136/jmg.2004.024505. PMID 15744043.