DISEASES

Disease-gene associations mined from literature

Literature associating SORBS3 and Kohlschutter-Tonz syndrome

SORBS3 [ENSP00000240123]

Vinexin; Vinexin alpha isoform promotes up-regulation of actin stress fiber formation. Vinexin beta isoform plays a role in cell spreading and enhances the activation of JNK/SAPK in response to EGF stimulation by using its third SH3 domain.

Synonyms:  SORBS3,  SORBS3p,  hSORBS3,  E5RIA0,  E5RJP2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM