AP3M1 Products

Description

The protein encoded by the AP3M1 gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane and may be directly involved in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq]

Bioinformatics

Entrez	26985 Human
Uniprot	NP_036227 Human NP_036227.1 Human NP_996895 Human Q9Y2T2 Human
Product By Gene ID	26985
Alternate Names	adaptor-related protein complex 3, mu 1 subunit AP-3 adapter complex mu3A subunit MGC22164 mu-3A subunit mu3A-adaptin Mu3A-adaptin