Automated description from the Alliance of Genome Resources (Release 7.4.0)
Involved in anterograde synaptic vesicle transport; neurotransmitter receptor transport, postsynaptic endosome to lysosome; and synaptic vesicle budding from endosome. Acts upstream of with a positive effect on positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including antigen processing and presentation, exogenous lipid antigen via MHC class Ib; establishment of protein localization; and positive regulation of NK T cell differentiation. Located in endosome membrane and terminal bouton. Is active in glutamatergic synapse; postsynapse; and presynaptic endosome. Is expressed in central nervous system and retina. Used to study Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 2; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome. Orthologous to human AP3D1 (adaptor related protein complex 3 subunit delta 1).
This site uses cookies.
Some cookies are essential for site operations and others help us analyze use and utility of our web site.
Please refer to our
privacy policy
for more information.