rs12593365
This is a intron variant variant in the FMN1 gene.
▶Research that mentions this SNP (1)
▶Gremlin 1, Frizzled‐related protein, and Dkk‐1 are key regulators of human articular cartilage homeostasisAssociationLeijten JC et al.(2012)· Arthritis & Rheumatism
Whole-genome expression analysis identified GREM1, FRZB, and DKK1 as natural inhibitors of hypertrophic differentiation in healthy articular cartilage compared to growth-plate cartilage. SNP rs12593365 in GREM1 was associated with a 20% reduced risk of radiographic hip osteoarthritis in population-based cohorts.
About FMN1
This gene belongs to the formin homology family and encodes a protein that has a role in the formation of adherens junction and the polymerization of linear actin cables. The homologous gene in mouse is associated with limb deformity. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2015]
View all FMN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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