MAP2K5 (Mitogen-Activated Protein Kinase Kinase 5, also known as MEK5) is a Protein Coding gene. The protein encoded by this gene is a dual-specificity protein kinase that belongs to the MAP kinase kinase family. The signal cascade mediated by this kinase is involved in growth factor-stimulated cell proliferation and muscle cell differentiation. 4 alternatively spliced human isoforms have been reported. Diseases associated with MAP2K5 include Caroli Disease and Restless Legs Syndrome. SNP rs1026732 in MAP2K5/SKOR1 was significantly associated with restless legs syndrome (RLS). RLS is considered a genetic disease and, following a genome-wide association study conducted in 2007, the MAP2K5 gene has been regarded as the promising candidate gene for RLS.
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