rs1784423
This variant is located in the MMP20 gene.
▶ClinVar annotation
not specified; Amelogenesis imperfecta hypomaturation type 2A2; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Identification of aDMBT1polymorphism associated with increased breast cancer risk and decreased promoter activityFunctionalTchatchou S. et al.(2010)· Human Mutation
This functional study identified 60 candidate differential allele-specific expression (DASE) loci in normal breast mammary epithelial cells using genome-wide SNP array analysis and validated them through Sanger sequencing. Key findings include identification of DMBT1 rs2981745 as a causal variant for DASE (DASE=2.03, P=0.0017, FDR=0.014), along with cancer-related genes ZNF331 and USP6 in a breast cancer-relevant pathway network. The study demonstrates that global DASE analysis is a novel approach for identifying breast cancer risk alleles.
About MMP20
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. [provided by RefSeq, Aug 2011]
View all MMP20 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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