ATG9A Gene - Autophagy Related 9A: Function, Mutations, and Disease Associations

ATG9A (Autophagy Related 9A) is a protein-coding gene that encodes a transmembrane protein essential for autophagosome formation. It is the only transmembrane core autophagy protein and cycles between the Golgi apparatus, endosomes, and the phagophore assembly site, delivering lipids to expanding autophagosomal membranes. ATG9A is involved in the initiation and elongation steps of autophagy, a cellular degradation process that removes damaged organelles and proteins. The protein contains multiple transmembrane domains and interacts with other ATG proteins to regulate autophagosome biogenesis.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Autophagy - animal

• mTOR signaling pathway

• Mitophagy

• Selective autophagy

ATG9A is a multi-pass transmembrane protein that localizes to the Golgi apparatus, endosomes, and autophagosomal membranes. It functions as a lipid scramblase, facilitating the delivery of phospholipids to expanding phagophores. ATG9A cycles between donor membranes and the autophagosome formation site, a process regulated by phosphorylation and interaction with ATG13 and other autophagy proteins. It is essential for autophagosome nucleation and expansion, and its dysfunction is linked to cancer, neurodegeneration, and inflammatory diseases.