DISEASES

Disease-gene associations mined from literature

Literature associating ARHGEF28 and Cri-Du-Chat syndrome

ARHGEF28 [ENSP00000441913]

Rho guanine nucleotide exchange factor 28; Functions as a RHOA-specific guanine nucleotide exchange factor regulating signaling pathways downstream of integrins and growth factor receptors. Functions in axonal branching, synapse formation and dendritic morphogenesis. Functions also in focal adhesion formation, cell motility and B-lymphocytes activation. May regulate NEFL expression and aggregation and play a role in apoptosis (By similarity).

Synonyms:  ARHGEF28,  D6RAP0,  D6RGZ3,  Q8N1W1,  D6RAP0p ...

Linkouts:  STRING  Pharos  UniProt