DISEASES

Disease-gene associations mined from literature

Literature associating SH3GL2 and Kohlschutter-Tonz syndrome

SH3GL2 [ENSP00000369981]

Endophilin-A1; Implicated in synaptic vesicle endocytosis. May recruit other proteins to membranes with high curvature. Required for BDNF-dependent dendrite outgrowth. Cooperates with SH3GL2 to mediate BDNF-NTRK2 early endocytic trafficking and signaling from early endosomes.

Synonyms:  SH3GL2,  SH3GL2p,  hSH3GL2,  Q99962,  Q99962p ...

Linkouts:  STRING  Pharos  UniProt  OMIM