Property Summary

NCBI Gene PubMed Count 1
PubMed Score 525.85
PubTator Score 292.72

Knowledge Summary


No data available



  Ortholog (11)

Species Source
Chimp OMA EggNOG Inparanoid
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA Inparanoid
Fruitfly EggNOG Inparanoid
S.cerevisiae OMA EggNOG Inparanoid

Gene RIF (55)

26993169 analysis of mitochondrial deletion and double mutations in the MT-ATP6 gene in Tunisian patients
26252090 T8821G mutation of the ATPase6 is associated with Leber's hereditary optic neuropathy.
25588698 Lack of Atp6 (F0-a) alters the structure but not the content of ATP synthase.
25556488 Five mutations able to change amino acid synthesis for the ATP synthase subunit 6 were associated with acute lymphoblastic leukemia in a Saudi Arabian cohort.
25541891 Two synonymous substitutions (mt.8614T>C and mt.8994G>A) in the mt-ATP6 gene may be associated with childhood obesity; study provides first data about mitochondrial genome variations in a Turkish obese population and also the first in obese children
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
25009317 Here, we report on a neonate with the m.8993 T>G mutation and emphasize implications of mtDNA disorders on family planning decisions.
24986921 Screening of the MT-ATP6 gene in a large collection of patients suspected of suffering different mitochondrial DNA (mtDNA) disorders. Biochemical, molecular-genetics and other analyses show three new pathologic mutations.
24153443 Mutations in mitochondrial DNA MT-ATP6/8 genes may be responsible for acute episodes of limb weakness.
24102627 This study suggests that, in part, polymorphisms in the MT-ATP6 and MT-CYB genes may contribute to the unexpected fertilization failure.

AA Sequence

AYVFTLLVSLYLHDNT                                                          211 - 226

Text Mined References (31)

PMID Year Title
26993169 2016 Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25037980 2014 Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.
21269460 2011 Initial characterization of the human central proteome.
18055910 2007 Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
17352390 2007 Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
16049925 2005 Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
15638829 2005 Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups.
15467980 2004 Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia.
15382008 2004 The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.