MMP20

Chr 11q22.2

matrix metallopeptidase 20

MANE:: ENST00000260228.3

OMIM: 604629 ↗NCBI: 9313 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

MMP20 · O60882

v62025-08-01

Predicted Aligned Error matrix for MMP20 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.3/ 100

Confident

483 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)22%
Low(50–70)6%
Very low(< 50)13%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Amelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Hypomaturation amelogenesis imperfecta
0.73
amelogenesis imperfecta
0.65
hereditary disease
0.41
recessive amelogenesis imperfecta
0.37
autoimmune disorder of central nervous system
0.36
tympanic membrane perforation
0.24
breast disorder
0.24
central nervous system infectious disorder
0.18
prostate carcinoma
0.17
prostate cancer
0.16

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Matrix metalloproteinase-20

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). May play a central role in tooth enamel formation. Cleaves aggrecan at the '360-Asn-|-Phe-361' site