rs738792
This is a protein-altering variant in the MMP11 gene.
▶Research that mentions this SNP (1)
▶Macrophage migration inhibitory factor gene polymorphisms and plasma levels in children with obstructive sleep apneaAssociationN=614Abdelnaby Khalyfa et al.(2012)· Pediatric Pulmonology
Case-control study of 614 children (5-8 years) examining 28 SNPs in the MIF gene for association with obstructive sleep apnea (OSA). Children with OSA showed elevated plasma MIF levels compared to controls (p<0.02). The rs10433310 SNP showed significantly decreased minor allele frequency in OSA vs controls (p=0.03), and the GG genotype was associated with reduced insulin levels, hsCRP, and HOMA-IR, suggesting a protective effect against cardiometabolic risk markers.
About MMP11
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. However, the enzyme encoded by this gene is activated intracellularly by furin within the constitutive secretory pathway. Also in contrast to other MMP's, this enzyme cleaves alpha 1-proteinase inhibitor but weakly degrades structural proteins of the extracellular matrix. [provided by RefSeq, Jul 2008]
View all MMP11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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