Property Summary

NCBI Gene PubMed Count 1
PubMed Score 191.42
PubTator Score 93.31

Knowledge Summary


No data available

Gene RIF (13)

25941154 polymorphisms in MT-ATP8 may have an impact on the pathogenesis of BP in the German population.
25756807 Mitochondrially encoded ATP synthase, complex V, is an important enzyme that provides energy to be used by the cell through the synthesis of ATP.
25110199 identified 8 changes in ATP6 gene in 36/50 examined breast cancer cell samples and 5 changes in ATP8 gene (10/50); most were homoplasmic changes of missense type; 4 changes (A8439C, G8858C, C9130G and T9119G) had not been described in the literature before
24456990 Mutations in ATP synthase F0 subunit 8 is associated with peripheral neuropathy of diabetes.
24440288 Three mutations were significantly related to the presence of epilepsy. These mutations were found at the 8502, 11994, and 13,231 bp of mtDNA, which resulted in amino acid changes at the MT-ATP-8, MT-ND4 and MT-ND5 genes.
24153443 Mutations in mitochondrial DNA MT-ATP6/8 genes may be responsible for acute episodes of limb weakness.
23840124 Patients with irritable bowel syndrome with diarrhea have a higher incidence of MT-ATP 6 and 8 polymorphisms than healthy subjects, implying that the mtDNA polymorphism may play a role in irritable bowel syndrome with diarrhea.
20082143 Case Report: absence of mtDNA-encoded ATPase6 and ATPase8 genes in progressive external ophthalmoplegia patient clearly resulted in aberrant synthesis of ATP synthase.
19758471 Observational study of gene-disease association. (HuGE Navigator)
19066432 Observational study of gene-disease association. (HuGE Navigator)
17619138 Observational study of gene-disease association. (HuGE Navigator)
17619138 Point mutation occurred in mtDNA might be involved in pathogenesis of multiple sclerosis.
11607774 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence


Text Mined References (12)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25941154 2015 Polymorphisms in the mitochondrially encoded ATP synthase 8 gene are associated with susceptibility to bullous pemphigoid in the German population.
21269460 2011 Initial characterization of the human central proteome.
19188198 2009 Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
14760490 2004 Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.
12949126 2003 Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.
12840039 2003 Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.
11130070 2000 Mitochondrial genome variation and the origin of modern humans.
9461455 1998 Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.
7530363 1995 Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.
7219534 1981 Sequence and organization of the human mitochondrial genome.
1757091 1991 Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.