Property Summary

NCBI Gene PubMed Count 1
Grant Count 27
R01 Count 8
Funding $2,436,687.52
PubMed Score 525.85
PubTator Score 292.72

Knowledge Summary

Patent

No data available

Expression

Gene RIF (55)

PMID Text
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.
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AA Sequence

MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMMTMHNTKGRTWSL      1 - 70
MLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMGFRSKIKNALAHFLPQGTPTPLIPM     71 - 140
LVIIETISLLIQPMALAVRLTANITAGHLLMHLIGSATLAMSTINLPSTLIIFTILILLTILEIAVALIQ    141 - 210
AYVFTLLVSLYLHDNT                                                          211 - 226
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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.
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