DISEASES

Disease-gene associations mined from literature

Literature associating CDC42BPG and epidermolysis bullosa simplex Dowling-Meara type

CDC42BPG [ENSP00000345133]

Myotonic dystrophy kinase-related CDC42-binding kinase gamma; May act as a downstream effector of CDC42 in cytoskeletal reorganization. Contributes to the actomyosin contractility required for cell invasion, through the regulation of MYPT1 and thus MLC2 phosphorylation (By similarity); Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.

Synonyms:  CDC42BPG,  Q6DT37,  DMPK2,  Q6DT37p,  hQ6DT37 ...

Linkouts:  STRING  Pharos  UniProt  OMIM