Corporate Headquarters
Vector Laboratories, Inc.
6737 Mowry Ave
Newark, CA 94560
United States
APPL2 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.
Gene Name: | adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 |
Synonyms: | APPL2, DIP13 beta, Dip13-beta, DIP13B |
Target Sequences: | NM_018171 NP_060641.2 Q8NEU8 |
If you do not find the reagent or information you require, please contact Customer.Support@LSBio.com to inquire about additional products in development.