靶标：
APPL2
产品别名：
DIP13B； APPL2； adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2； adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2； DCC-interacting protein 13-beta； DIP13 beta； adapter protein containing PH domain, PTB domain and leucine zipper motif 2； adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2； DIP13β；
背景信息：
The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome.
