Disease-gene associations mined from literature

Literature associating PAK7 and early infantile epileptic encephalopathy 12

PAK7 [ENSP00000367686]

P21 protein (Cdc42/Rac)-activated kinase 7; Serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell migration, proliferation or cell survival. Activation by various effectors including growth factor receptors or active CDC42 and RAC1 results in a conformational change and a subsequent autophosphorylation on several serine and/or threonine residues. Phosphorylates the proto-oncogene RAF1 and stimulates its kinase activity. Promotes cell survival by phosphorylating the BCL2 antagonist of cell death BAD. Phosphorylates CTNND1, probably to regulate cytoskeletal organization and cell morphology. Keeps microtubules stable through MARK2 inhibition and destabilizes the F-actin network leading to the disappearance of stress fibers and focal adhesions; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily.

Synonyms:  PAK7,  PAK7p,  hPAK7,  PAK5,  PAK7-001 ...

Linkouts:  STRING  Pharos  UniProt