Gene Review:
APPL2 - adaptor protein, phosphotyrosine...
Homo sapiens
Synonyms:
Adapter protein containing PH domain, PTB domain and leucine zipper motif 2, DCC-interacting protein 13-beta, DIP13B, Dip13-beta, FLJ10659
- APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment. Miaczynska, M., Christoforidis, S., Giner, A., Shevchenko, A., Uttenweiler-Joseph, S., Habermann, B., Wilm, M., Parton, R.G., Zerial, M. Cell (2004)
- Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Bonaglia, M.C., Giorda, R., Borgatti, R., Felisari, G., Gagliardi, C., Selicorni, A., Zuffardi, O. Am. J. Hum. Genet. (2001)