AP3C

AP3C is a protein that plays a role in intracellular trafficking. It is a subunit of the AP-3 complex, a heterotetrameric protein complex involved in the sorting and transport of proteins within the cell. The AP-3 complex is known to mediate the transport of transmembrane proteins to specific cellular compartments, including lysosomes and melanosomes.

The AP-3 complex is composed of four subunits: delta (δ), sigma (σ), mu (μ), and alpha (α). AP3C specifically refers to the delta subunit of the AP-3 complex. This subunit is thought to be crucial for the assembly and function of the entire complex.

Mutations in genes encoding AP-3 subunits, including the gene for the delta subunit, have been linked to several human disorders. These disorders often affect pigment production, leading to conditions like Hermansky-Pudlak syndrome. This syndrome is characterized by oculocutaneous albinism and bleeding disorders, which are thought to arise from defects in lysosome-related organelles due to impaired protein trafficking. Research into AP3C and its role in the AP-3 complex continues to shed light on fundamental cellular processes and the molecular basis of certain genetic diseases.