AFG3L2 pseudogene 1 (AFG3L2P1)

AFG3L2 pseudogene 1 (AFG3L2P1), also known as AFG3L1 in humans, is a non-functional pseudogene related to the functional AFG3L2 gene. In humans, AFG3L1 has lost its protein-coding potential and does not produce an active protein, nor does it participate in m-AAA protease complex formation. While the functional AFG3L2 gene encodes a mitochondrial AAA+ protease subunit essential for protein quality control and mitochondrial function, the AFG3L2P1 pseudogene itself does not contribute to these activities or any other biological functions in humans. Unlike the mouse ortholog, human AFG3L1 is nonfunctional, even though it may show low-level expression. AFG3L2P1 is not considered an active target, enzyme, or receptor, and there are no known drugs, clinical biomarkers, or therapeutic applications associated with it. Mutations in the functional AFG3L2 gene have been linked to neurodegenerative disorders like spinocerebellar ataxia, but the pseudogene has no such associations.

Other names

AFG3L1AFG3L2P1