Aliases for EPG5 Gene
External Ids for EPG5 Gene
Previous HGNC Symbols for EPG5 Gene
Previous GeneCards Identifiers for EPG5 Gene
This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]
GeneCards Summary for EPG5 Gene
EPG5 (Ectopic P-Granules Autophagy Protein 5 Homolog) is a Protein Coding gene. Diseases associated with EPG5 include Vici Syndrome and Spastic Paraplegia 49, Autosomal Recessive. An important paralog of this gene is LIX1L.
UniProtKB/Swiss-Prot Summary for EPG5 Gene
Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located (PubMed:29130391).