• SNX14 gene belongs to sorting nexin proteins and PXA-RGS-PXPXC subfamily. It contains two putative transmembrane domains and four conserved domains .
• It plays a pivotal role in maintaining the normal neuronal excitability and synaptic transmission and in mediating the fusion of lysosomes with autophagosomes
• SNX14 mRNA is highly expressed in the granule and Purkinje cell layer of the cerebellum and the transcript level continues to increase through postnatal life until adulthood, thus explaining the susceptibility of the organ to insult.
• Mutations in the SNX14 gene result in disruption of autophagosome clearance and hence is considered as a congenital disorder of autophagy
• The gene has no specific hot spot and the majority of reported variants are nonsense and frameshift variants
SNX14