EPG5

This gene encodes a protein that functions in autophagy and plays a key role in immune responses by facilitating the translocation of pathogen-derived CpG dinucleotides to lysosomes where TLR9 is located. Mutations cause Vici syndrome and neurodevelopmental disorder with parkinsonism or other movement abnormalities, both inherited in an autosomal recessive pattern. The gene is highly constrained against loss-of-function variants, indicating its critical importance for normal cellular function.