Disease-gene associations mined from literature

Literature associating CDC42BPB and epidermolysis bullosa simplex Dowling-Meara type

CDC42BPB [ENSP00000355237]

Myotonic dystrophy kinase-related CDC42-binding kinase beta; Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2. In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration. Phosphorylates PPP1R12A. In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F- actin regulation (By similarity).

Synonyms:  CDC42BPB,  A0A024R6N2,  Q86TR8,  Q9Y5S2,  KIAA1124 ...

Linkouts:  STRING  Pharos  UniProt