AKAP13

AKAP13

A gene on chromosome 15q24-q25 that encodes a member of the structurally diverse A-kinase anchor protein (AKAP) family, which binds to the regulatory subunits (RI/RII) of cAMP-dependent protein kinase A (PKA), confining PKA to discrete locations within the cell based on different targeting motifs. Alternative splicing of AKAP13 results in at least 3 transcript variants that encode different isoforms containing a dbl oncogene homology (DH) domain and a pleckstrin homology (PH) domain with various functions. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP-binding proteins, activating GTPase and resulting in signal transduction. The isoforms function as scaffolding proteins to co-ordinate a Rho-signalling pathway and function as PKA-anchoring proteins
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These genes includes AKAP13, AMER2, BBX, CEP97, CYP46A1, DPP3, DUSP2, GLIS3, GNB2, KLHL31, KMT2E, L1CAM, MINK1, NLN, PCSK5, PFKFB3, PHF6, PRPF38B, RB1, RGS7BP, RSF1, SEMA4C, SLC35F3, SLITRK2, SNX17, TNKS1BP1, TNPO1, and ZBTB41.
Three proteins EIF2AK2, DYRK1A and AKAP13 have been found to cause a malfunction in tau, a protein critical to the formation of the microtubule bridges within brain cells, or neurons.