Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
0.020 Biomarker disease BEFREE Accumulating autofluorescent lysosomal storage material in CLN3 disease, consisting of dolichols, lipids, biometals, and a protein that normally resides in the mitochondria, subunit c of the mitochondrial ATPase, provides evidence that autophagosomal-lysosomal turnover of cellular components is disrupted upon loss of CLN3 protein function. 31783699 2019
Entrez Id: 514
Gene Symbol: ATP5F1E
ATP5F1E
0.020 GeneticVariation disease BEFREE The Saccharomyces cerevisiae gene BTN1, encodes a 408 amino acid putative integral membrane protein, which is 39% identical and 59% similar to the human Cln3p, whose mutant forms are responsible for Batten's disease and for a diminished degradation of mitochondrial ATPase synthase subunit c. Disruption experiments established that Btn1p is not essential for viability, mitochondrial function, or degradation of mitochondrial ATP synthase in yeast. 9219333 1997