SNX14

Description

The SNX14 (sorting nexin 14) is a protein-coding gene located on chromosome 6.

SNX14 plays a crucial role in maintaining normal neuronal excitability and synaptic transmission. Its involvement in various stages of intracellular trafficking is likely, though further research is needed to confirm this. It is essential for autophagosome clearance, likely by mediating the fusion of lysosomes with autophagosomes. SNX14 binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes, but does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)).

SNX14 is also known as RGS-PX2, SCAR20.

Associated Diseases

• Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
• Spinocerebellar ataxia, autosomal recessive 20