Ap3b1 - adaptor related protein complex 3 subunit beta 1 Gene

About Ap3b1

Summary

Predicted to enable GTP-dependent protein binding activity and protein Phosphatase binding activity. Predicted to be involved in anterograde synaptic vesicle transport and synaptic vesicle budding from endosome. Predicted to act upstream of or within with a negative effect on mRNA transcription by RNA polymerase II and regulation of catalytic activity. Predicted to act upstream of or within several processes, including animal organ development; establishment of protein localization to organelle; and vesicle organization. Predicted to be located in several cellular components, including axon cytoplasm; clathrin-coated vesicle membrane; and mitochondrion. Predicted to be part of AP-3 adaptor complex and clathrin adaptor complex. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 2; interstitial lung disease; neutropenia; and pulmonary fibrosis. Orthologous to human AP3B1 (adaptor related protein complex 3 subunit beta 1). [provided by Alliance of Genome Resources, Apr 2022]