Gene: LOC101928477

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: MMP20

Alternate names for this Gene: AI2A2|MMP-20

Gene Summary: 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 thus 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 located on chromosome 11q22.3.

Gene is located in Chromosome: 11

Location in Chromosome : 11q22.2

Description of this Gene: matrix metallopeptidase 20

Type of Gene: protein-coding

rs61730849 in LOC101928477;MMP20 gene and Amelogenesis Imperfecta, Hypomaturation Type, Iia2 PMID 23625376 2013 Homozygous and compound heterozygous MMP20 mutations in amelogenesis imperfecta.

PMID 28473773 2017 Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta.

PMID 28659819 2017 Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta.

rs17098961 in LOC101928477;MMP20 gene and Duration of sleep PMID 27126917 2016 Genome-wide association analysis of actigraphic sleep phenotypes in the LIFE Adult Study.