Ontology highlight
ABSTRACT:
SUBMITTER: Arnold M
PROVIDER: S-EPMC5031601 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Arnold Miranda M Cross Rebecca R Singleton Kaela S KS Zlatic Stephanie S Chapleau Christopher C Mullin Ariana P AP Rolle Isaiah I Moore Carlene C CC Theibert Anne A Pozzo-Miller Lucas L Faundez Victor V Larimore Jennifer J
Frontiers in cellular neuroscience 20160922
AGAP1 is an Arf1 GTPase activating protein that interacts with the vesicle-associated protein complexes adaptor protein 3 (AP-3) and Biogenesis of Lysosome Related Organelles Complex-1 (BLOC-1). Overexpression of AGAP1 in non-neuronal cells results in an accumulation of endosomal cargoes, which suggests a role in endosome-dependent traffic. In addition, AGAP1 is a candidate susceptibility gene for two neurodevelopmental disorders, autism spectrum disorder (ASD) and schizophrenia (SZ); yet its lo ...[more]