Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.
Features include always present findings: Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, and Hypomature enamel; and common findings: Anterior open-bite malocclusion.
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
MMP20 encodes matrix metallopeptidase 20 (483 aa). Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP). Highest expression in Testis (2.9 TPM) and Minor Salivary Gland (0.1 TPM).
Amelogenesis imperfecta hypomaturation type 2A2 is associated with mutations in the MMP20 gene on chromosome 11.
The MMP20 protein participates in Laminin-332 degradation by laminin-322 degrading extracellular proteinases pathway.
MMP20 is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.
Genetic testing for MMP20 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for amelogenesis imperfecta hypomaturation type 2A2 has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 1 common feature.
No clinical trials have been registered for amelogenesis imperfecta hypomaturation type 2A2.
7 publications have been identified in PubMed for amelogenesis imperfecta hypomaturation type 2A2. Research spans Basic Science / Preclinical (43%), Diagnostic / Biomarker (29%), and Gene Therapy / Novel Therapeutics (29%).
Patni AP (2026). [PMID: 41765949](https://pubmed.ncbi.nlm.nih.gov/41765949/). *Int J Oral Sci*. [Gene Therapy / Novel Therapeutics]
Wang SK (2026). [PMID: 41585151](https://pubmed.ncbi.nlm.nih.gov/41585151/). *J Dent Sci*. [Basic Science / Preclinical]
Wang YL (2026). [PMID: 41774401](https://pubmed.ncbi.nlm.nih.gov/41774401/). *Ann N Y Acad Sci*. [Basic Science / Preclinical]
Hany U (2025). [PMID: 40741335](https://pubmed.ncbi.nlm.nih.gov/40741335/). *Hum Mutat*. [Diagnostic / Biomarker]
Patni AP (2025). [PMID: 40236031](https://pubmed.ncbi.nlm.nih.gov/40236031/). *bioRxiv*. [Gene Therapy / Novel Therapeutics]
Leban T (2025). [PMID: 40725478](https://pubmed.ncbi.nlm.nih.gov/40725478/). *Genes (Basel)*. [Diagnostic / Biomarker]
Avelar FM (2024). [PMID: 39273410](https://pubmed.ncbi.nlm.nih.gov/39273410/). *Int J Mol Sci*. [Basic Science / Preclinical]