SNX14
Function
Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking (By similarity). Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes (Probable). Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes (PubMed:25848753). Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)) (PubMed:25148684, PubMed:25848753).
Involvement in disease
Spinocerebellar ataxia, autosomal recessive, 20
SCAR20
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the sorting nexin family.
Tissue Specificity
Widely expressed both in fetal and adult tissues.
Cellular localization
- Lysosome membrane
- Multi-pass membrane protein
- Late endosome membrane
- Multi-pass membrane protein
- Cell projection
- Dendrite
Alternative names
Sorting nexin-14, SNX14