SNF8
Function
Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs, and plays a role in autophagy (PubMed:38423010). The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. It is also required for the degradation of CXCR4. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
Involvement in disease
Developmental and epileptic encephalopathy 115
DEE115
A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE115 is an autosomal recessive, severe form characterized by onset soon after birth. Affected individuals show massive reduction of white matter, hypo- or aplasia of the corpus callosum, and neurodevelopmental arrest. Death in the first year of life may occur.
None
The disease is caused by variants affecting the gene represented in this entry.
Neurodevelopmental disorder plus optic atrophy
NEDOA
An autosomal recessive disorder characterized by mild developmental delay, intellectual disability and childhood-onset optic atrophy or ataxia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SNF8 family.
Cellular localization
- Cytoplasm
- Endosome membrane
- Nucleus
- Late endosome membrane
- Recruited to the endosome membrane to participate in vesicle formation.
Alternative names
EAP30, SNF8, Vacuolar-sorting protein SNF8, ELL-associated protein of 30 kDa, ESCRT-II complex subunit VPS22, hVps22