Vacuolar-sorting protein SNF8 (SNF8)

Vacuolar-sorting protein SNF8 is a subunit of the endosomal sorting complex required for transport II (ESCRT-II) in humans, encoded by the SNF8 gene. As an integral part of the ESCRT-II complex, SNF8 is critical for the formation of multivesicular bodies (MVBs) and the sorting of ubiquitinated transmembrane proteins for lysosomal degradation. This process is essential for downregulating receptors, mediating vesicle-mediated transport, and facilitating proper autophagy. Additionally, SNF8, through ESCRT-II, may play a role in transcriptional regulation by interacting with RNA polymerase II and the transcription elongation factor ELL. Mutations in SNF8 are associated with specific neurodevelopmental disorders, notably developmental and epileptic encephalopathy and neurodevelopmental disorder with optic atrophy[1][6][7].

Other names

Vacuolar-sorting protein SNF8EAP30hVps22VPS22Dot3ELL-associated protein of 30 kDaESCRT-II complex subunit VPS22DEE115NEDOAEAP30 subunit of ELL complexESCRT-II complex subunit