Literature associating VPS35L and autosomal recessive spinocerebellar ataxia 12
VPS35L [ENSP00000251143]
VPS35 endosomal protein sorting factor-like; Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) . The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes . In the endosomes, drives the retrieval and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling . Involved in copper-dependent ATP7A trafficking between the trans-Golgi network and vesicles in the cell periphery; the function is proposed to depend on its association with the CCC complex and cooperation with the WASH complex on early endosomes. Seems not to be required for CCC complex stability .
Synonyms: VPS35L, VPS35Lp, hVPS35L, C9J7I2, E7EWW0 ...