MAP2K5

MAP2K5

A gene on chromosome 15q23 that encodes a MAPK kinase belonging to a protein kinase signal transduction cascade. MAP2K5 is a dual-specificity protein kinase, which acts as a scaffold for a ternary MAP3K2/MAP3K3-MAP3K5-MAPK7 signalling complex. Activation of this pathway appears to play a critical role in protecting cells from stress-induced apopotosis, neuronal survival, and cardiac development and angiogenesis.
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A genome-wide association study in 922 cases with over 1,500 controls, all of European descent, found six loci, which identified RLS susceptibility: MEIS1, BTBD9, PTPRD, a locus encompassing MAP2K5, and SKOR1 as well as a region on chromosomes 2p14 and 16q12.
The annotated genes MAP2K5 and LBXCOR1 are located in the third locus, but because of the association study design the team could not differentiate which gene is ultimately involved in RLS.