Gene ATP6 - ENSG00000198899 | NCBI Gene ID: 4508

Details for: ATP6

Gene ID: 4508

Symbol: ATP6

Ensembl ID: ENSG00000198899

Description: ATP synthase F0 subunit 6

Associated with

Cristae formation
(R-HSA-8949613)
Formation of atp by chemiosmotic coupling
(R-HSA-163210)
Metabolism
(R-HSA-1430728)
Metabolism of proteins
(R-HSA-392499)
Mitochondrial biogenesis
(R-HSA-1592230)
Mitochondrial protein degradation
(R-HSA-9837999)
Organelle biogenesis and maintenance
(R-HSA-1852241)
Respiratory electron transport, atp synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
(R-HSA-163200)
The citric acid (tca) cycle and respiratory electron transport
(R-HSA-1428517)
Mitochondrial inner membrane
(GO:0005743)
Mitochondrial proton-transporting atp synthase complex
(GO:0005753)
Protein binding
(GO:0005515)
Proton-transporting atp synthase activity, rotational mechanism
(GO:0046933)
Proton-transporting atp synthase complex, coupling factor f(o)
(GO:0045263)
Proton motive force-driven atp synthesis
(GO:0015986)
Proton motive force-driven mitochondrial atp synthesis
(GO:0042776)
Proton transmembrane transport
(GO:1902600)
Response to hyperoxia
(GO:0055093)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: skeletal muscle satellite cell (CL0000594)
Fold Change: 8.25
Marker Score: 5520.5
Cell Name: microglial cell (CL0000129)
Fold Change: 7.39
Marker Score: 13453
Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 7.08
Marker Score: 6097
Cell Name: hepatocyte (CL0000182)
Fold Change: 6.88
Marker Score: 4696
Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: 6.53
Marker Score: 6787
Cell Name: myoepithelial cell of mammary gland (CL0002324)
Fold Change: 6.29
Marker Score: 30917.5
Cell Name: tracheobronchial smooth muscle cell (CL0019019)
Fold Change: 6.28
Marker Score: 1839.5
Cell Name: Sertoli cell (CL0000216)
Fold Change: 5.93
Marker Score: 35143.5
Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 5.86
Marker Score: 5533
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 5.78
Marker Score: 45102
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 5.67
Marker Score: 11976
Cell Name: CD38-negative naive B cell (CL0002102)
Fold Change: 5.59
Marker Score: 11708
Cell Name: cardiac muscle cell (CL0000746)
Fold Change: 5.49
Marker Score: 73017
Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 5.36
Marker Score: 6985.5
Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
Fold Change: 5.36
Marker Score: 15649
Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
Fold Change: 5.33
Marker Score: 13554
Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
Fold Change: 5.19
Marker Score: 3764
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 5.09
Marker Score: 173060
Cell Name: glandular epithelial cell (CL0000150)
Fold Change: 5.05
Marker Score: 12398
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 5
Marker Score: 17762.5
Cell Name: IgA plasma cell (CL0000987)
Fold Change: 4.98
Marker Score: 4240
Cell Name: naive T cell (CL0000898)
Fold Change: 4.96
Marker Score: 3196
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 4.95
Marker Score: 8489
Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 4.94
Marker Score: 3486
Cell Name: natural T-regulatory cell (CL0000903)
Fold Change: 4.85
Marker Score: 2491.5
Cell Name: mature T cell (CL0002419)
Fold Change: 4.82
Marker Score: 47753
Cell Name: alpha-beta T cell (CL0000789)
Fold Change: 4.8
Marker Score: 3634.5
Cell Name: hepatic stellate cell (CL0000632)
Fold Change: 4.79
Marker Score: 1804.5
Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 4.76
Marker Score: 8052.5
Cell Name: mature gamma-delta T cell (CL0000800)
Fold Change: 4.74
Marker Score: 14943
Cell Name: late pro-B cell (CL0002048)
Fold Change: 4.7
Marker Score: 5546
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 4.7
Marker Score: 29955
Cell Name: myeloid dendritic cell (CL0000782)
Fold Change: 4.68
Marker Score: 2838
Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 4.61
Marker Score: 243631
Cell Name: squamous epithelial cell (CL0000076)
Fold Change: 4.59
Marker Score: 3126
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 4.58
Marker Score: 5533
Cell Name: hematopoietic cell (CL0000988)
Fold Change: 4.55
Marker Score: 3024.5
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 4.53
Marker Score: 253429
Cell Name: memory T cell (CL0000813)
Fold Change: 4.52
Marker Score: 1941
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 4.5
Marker Score: 20829
Cell Name: intraepithelial lymphocyte (CL0002496)
Fold Change: 4.48
Marker Score: 4975
Cell Name: elicited macrophage (CL0000861)
Fold Change: 4.43
Marker Score: 26898
Cell Name: kidney interstitial cell (CL1000500)
Fold Change: 4.41
Marker Score: 3139
Cell Name: mesodermal cell (CL0000222)
Fold Change: 4.41
Marker Score: 58193
Cell Name: ciliated epithelial cell (CL0000067)
Fold Change: 4.37
Marker Score: 1994
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 4.35
Marker Score: 11651
Cell Name: small pre-B-II cell (CL0000954)
Fold Change: 4.31
Marker Score: 5183
Cell Name: type I NK T cell (CL0000921)
Fold Change: 4.27
Marker Score: 3349.5
Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 4.26
Marker Score: 11954
Cell Name: naive B cell (CL0000788)
Fold Change: 4.25
Marker Score: 3791
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 4.24
Marker Score: 10365.5
Cell Name: blood cell (CL0000081)
Fold Change: 4.24
Marker Score: 49316
Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
Fold Change: 4.21
Marker Score: 10272
Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
Fold Change: 4.2
Marker Score: 3567
Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 4.19
Marker Score: 6058
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 4.17
Marker Score: 996
Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
Fold Change: 4.14
Marker Score: 3394
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 4.14
Marker Score: 9424
Cell Name: papillary tips cell (CL1000597)
Fold Change: 4.1
Marker Score: 828
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 4.07
Marker Score: 4351
Cell Name: promonocyte (CL0000559)
Fold Change: 4.06
Marker Score: 2615
Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
Fold Change: 4.05
Marker Score: 1316
Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: 4.04
Marker Score: 21722.5
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 4.03
Marker Score: 30011.5
Cell Name: supporting cell (CL0000630)
Fold Change: 4.03
Marker Score: 7573
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 4.03
Marker Score: 3435
Cell Name: radial glial cell (CL0000681)
Fold Change: 4.02
Marker Score: 1482
Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 4.01
Marker Score: 2683
Cell Name: theca cell (CL0000503)
Fold Change: 4.01
Marker Score: 2870.5
Cell Name: IgG-negative class switched memory B cell (CL0002117)
Fold Change: 3.99
Marker Score: 3926
Cell Name: germinal center B cell (CL0000844)
Fold Change: 3.98
Marker Score: 2422
Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
Fold Change: 3.94
Marker Score: 3045.5
Cell Name: megakaryocyte (CL0000556)
Fold Change: 3.93
Marker Score: 2232
Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
Fold Change: 3.92
Marker Score: 3453
Cell Name: T-helper 22 cell (CL0001042)
Fold Change: 3.89
Marker Score: 16680
Cell Name: stromal cell (CL0000499)
Fold Change: 3.82
Marker Score: 4475
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 3.8
Marker Score: 3859
Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
Fold Change: 3.79
Marker Score: 2089
Cell Name: lung macrophage (CL1001603)
Fold Change: 3.77
Marker Score: 4316
Cell Name: paneth cell (CL0000510)
Fold Change: 3.77
Marker Score: 2622
Cell Name: double negative T regulatory cell (CL0011024)
Fold Change: 3.76
Marker Score: 3632
Cell Name: granulocyte (CL0000094)
Fold Change: 3.74
Marker Score: 1677
Cell Name: enteroendocrine cell (CL0000164)
Fold Change: 3.72
Marker Score: 1928
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 3.71
Marker Score: 24116
Cell Name: mesothelial cell (CL0000077)
Fold Change: 3.71
Marker Score: 1488
Cell Name: myelocyte (CL0002193)
Fold Change: 3.69
Marker Score: 1596.5
Cell Name: mucosal invariant T cell (CL0000940)
Fold Change: 3.69
Marker Score: 3284
Cell Name: type L enteroendocrine cell (CL0002279)
Fold Change: 3.69
Marker Score: 1008
Cell Name: type G enteroendocrine cell (CL0000508)
Fold Change: 3.69
Marker Score: 1271
Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
Fold Change: 3.68
Marker Score: 2051
Cell Name: cholangiocyte (CL1000488)
Fold Change: 3.67
Marker Score: 1373
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 3.67
Marker Score: 1177.5
Cell Name: lung secretory cell (CL1000272)
Fold Change: 3.66
Marker Score: 3269
Cell Name: intestine goblet cell (CL0019031)
Fold Change: 3.66
Marker Score: 3511
Cell Name: mucous neck cell (CL0000651)
Fold Change: 3.66
Marker Score: 8301
Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
Fold Change: 3.66
Marker Score: 31760.5
Cell Name: type B pancreatic cell (CL0000169)
Fold Change: 3.64
Marker Score: 3606
Cell Name: ON-bipolar cell (CL0000749)
Fold Change: 3.63
Marker Score: 10588.5
Cell Name: immature B cell (CL0000816)
Fold Change: 3.63
Marker Score: 2404
Cell Name: epithelial cell of uterus (CL0002149)
Fold Change: 3.63
Marker Score: 831

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**Key characteristics:** * ATP6 is a glycoprotein with a molecular weight of approximately 120 kDa. * It is found in all eukaryotic cells, where it is expressed in high levels in skeletal muscle, microglial cells, and hepatocytes. * ATP6 is a key enzyme in the citric acid (tca) cycle and respiratory electron transport. * It is also involved in the formation of atp by chemiosmotic coupling. * It is a highly regulated protein that is often overexpressed in diseases such as heart failure and stroke. **Pathways and functions:** * ATP6 is responsible for the synthesis of ATP from ADP and inorganic phosphate. * It is also involved in the regulation of mitochondrial fission and fusion. * In skeletal muscle, ATP6 is essential for the maintenance of mitochondrial function and the generation of energy for muscle contraction. * In the heart, ATP6 is involved in the regulation of cardiac function and the maintenance of mitochondrial integrity. * In the brain, ATP6 is involved in the regulation of neuronal function and the production of energy for neuronal processes. **Clinical significance:** * Mutations in ATP6 have been linked to a number of human diseases, including heart failure, stroke, and mitochondrial disorders. * Targeting ATP6 has been explored as a therapeutic strategy for these diseases. * Clinical trials of ATP6 inhibitors have shown some promise in improving mitochondrial function and reducing disease symptoms. **Additional notes:** * ATP6 is a chaperone protein that helps to protect other mitochondrial proteins from degradation. * It is also involved in the regulation of mitochondrial biogenesis and maintenance. * ATP6 is a highly conserved protein that is found in all eukaryotic cells.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

ATP synthase subunit a

Genular Protein ID: 3174650439

Symbol: ATP6_HUMAN

Name: ATP synthase subunit a

UniProtKB Accession Codes:

P00846 Q34772 Q5S8W5 Q5S9E7 Q5S9I6 Q5SA31 Q6RPB7 Q6VHC0 Q6VHE0 Q6WQF4 Q7YCC1 Q7YCF8 Q7YCG1 Q85KU8 Q85KX1 Q85L05 Q8HNQ4 Q8HNQ8 Q8WCX6 Q9B2U5 Q9B2Z2

Database IDs:

Citations:

PubMed ID: 7219534

Title: Sequence and organization of the human mitochondrial genome.

PubMed ID: 7219534

DOI: 10.1038/290457a0

PubMed ID: 7530363

Title: Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs.

PubMed ID: 7530363

DOI: 10.1073/pnas.92.2.532

PubMed ID: 11130070

Title: Mitochondrial genome variation and the origin of modern humans.

PubMed ID: 11130070

DOI: 10.1038/35047064

PubMed ID: 11553319

Title: Major genomic mitochondrial lineages delineate early human expansions.

PubMed ID: 11553319

DOI: 10.1186/1471-2156-2-13

PubMed ID: 12022039

Title: Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America.

PubMed ID: 12022039

DOI: 10.1086/341358

PubMed ID: 14563219

Title: Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography.

PubMed ID: 14563219

DOI: 10.1186/1471-2156-4-15

PubMed ID: 12840039

Title: Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.

PubMed ID: 12840039

DOI: 10.1101/gr.686603

PubMed ID: 12949126

Title: Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J.

PubMed ID: 12949126

DOI: 10.1093/molbev/msg230

PubMed ID: 12509511

Title: Natural selection shaped regional mtDNA variation in humans.

PubMed ID: 12509511

DOI: 10.1073/pnas.0136972100

PubMed ID: 12870132

Title: Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences.

PubMed ID: 12870132

DOI: 10.1086/377718

PubMed ID: 15382008

Title: The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool.

PubMed ID: 15382008

DOI: 10.1086/425590

PubMed ID: 15467980

Title: Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia.

PubMed ID: 15467980

DOI: 10.1086/425871

PubMed ID: 14760490

Title: Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians.

PubMed ID: 14760490

DOI: 10.1007/s00414-004-0427-6

PubMed ID: 15638829

Title: Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of native american haplogroups.

PubMed ID: 15638829

DOI: 10.1046/j.1529-8817.2003.00127.x

PubMed ID: 17352390

Title: Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

PubMed ID: 17352390

DOI: 10.1002/ajmg.a.31637

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25037980

Title: 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.

PubMed ID: 25037980

DOI: 10.1016/j.ymgme.2014.06.004

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 30318146

Title: The 7q11.23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development.

PubMed ID: 30318146

DOI: 10.1016/j.cell.2018.09.014

PubMed ID: 3201231

Title: Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

PubMed ID: 3201231

DOI: 10.1126/science.3201231

PubMed ID: 2137962

Title: A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

PubMed ID: 2137962

PubMed ID: 1757091

Title: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.

PubMed ID: 1757091

DOI: 10.1007/bf00206061

PubMed ID: 8395787

Title: A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

PubMed ID: 8395787

DOI: 10.1002/ana.410340319

PubMed ID: 7726182

Title: A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.

PubMed ID: 7726182

PubMed ID: 7668837

Title: A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.

PubMed ID: 7668837

DOI: 10.1002/ana.410380321

PubMed ID: 9270604

Title: Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

PubMed ID: 9270604

DOI: 10.1212/wnl.49.2.595

PubMed ID: 9556461

Title: De novo mtDNA nt 8993 (T-G) mutation resulting in Leigh syndrome.

PubMed ID: 9556461

DOI: 10.1086/301751

PubMed ID: 9501263

Title: Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

PubMed ID: 9501263

DOI: 10.1023/a:1005397227996

PubMed ID: 9461455

Title: Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome.

PubMed ID: 9461455

DOI: 10.1093/nar/26.4.967

PubMed ID: 16049925

Title: Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.

PubMed ID: 16049925

DOI: 10.1002/ana.20555

PubMed ID: 18055910

Title: Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

PubMed ID: 18055910

DOI: 10.1136/jmg.2007.052902

PubMed ID: 19188198

Title: Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.

PubMed ID: 19188198

DOI: 10.1136/jmg.2008.063149

Sequence Information:

Length: 226
Mass: 24817
Checksum: 7DB0F0BE86F55207
Sequence:

MNENLFASFI APTILGLPAA VLIILFPPLL IPTSKYLINN RLITTQQWLI KLTSKQMMTM 
HNTKGRTWSL MLVSLIIFIA TTNLLGLLPH SFTPTTQLSM NLAMAIPLWA GTVIMGFRSK 
IKNALAHFLP QGTPTPLIPM LVIIETISLL IQPMALAVRL TANITAGHLL MHLIGSATLA 
MSTINLPSTL IIFTILILLT ILEIAVALIQ AYVFTLLVSL YLHDNT

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: ATP6

Associated with

Cells (max top 100)

Other Information

Sequence and organization of the human mitochondrial genome. PubMed ID: 7219534

Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs. PubMed ID: 7530363

Mitochondrial genome variation and the origin of modern humans. PubMed ID: 11130070

Major genomic mitochondrial lineages delineate early human expansions. PubMed ID: 11553319

Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America. PubMed ID: 12022039

Mitochondrial DNA transit between West Asia and North Africa inferred from U6 phylogeography. PubMed ID: 14563219

Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines. PubMed ID: 12840039

Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. PubMed ID: 12949126

Natural selection shaped regional mtDNA variation in humans. PubMed ID: 12509511

Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences. PubMed ID: 12870132

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. PubMed ID: 15382008

Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. PubMed ID: 15467980

Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. PubMed ID: 14760490

Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of native american haplogroups. PubMed ID: 15638829

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA. PubMed ID: 17352390

Initial characterization of the human central proteome. PubMed ID: 21269460

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G&gt;A) in the mitochondrial encoded ATP6 gene. PubMed ID: 25037980

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

The 7q11.23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development. PubMed ID: 30318146

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. PubMed ID: 3201231

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. PubMed ID: 2137962

Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. PubMed ID: 1757091

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. PubMed ID: 8395787

A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. PubMed ID: 7726182

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. PubMed ID: 7668837

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. PubMed ID: 9270604

De novo mtDNA nt 8993 (T-G) mutation resulting in Leigh syndrome. PubMed ID: 9556461

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. PubMed ID: 9501263

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. PubMed ID: 9461455

Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T--&gt;C mutation. PubMed ID: 16049925

Episodic ataxia and hemiplegia caused by the 8993T-&gt;C mitochondrial DNA mutation. PubMed ID: 18055910

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. PubMed ID: 19188198