KEGG   VARIANT: 4508v1
Entry
4508v1                      Variant                                
Name
ATP6 mutation
Gene
ATP6  ATP synthase F0 subunit 6 [KO:K02126]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 516060
Network
nt06529  Thermogenesis
Disease
H01369  ATP synthase deficiency
Reference
  Authors
Jackson CB, Hahn D, Schroter B, Richter U, Battersby BJ, Schmitt-Mechelke T, Marttinen P, Nuoffer JM, Schaller A
  Title
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
  Journal
Eur J Med Genet 60:345-351 (2017)
DOI:10.1016/j.ejmg.2017.04.006
LinkDB

KEGG   VARIANT: 539v1
Entry
539v1                      Variant                                 
Name
ATP5PO mutation
Gene
ATP5PO  ATP synthase peripheral stalk subunit OSCP [KO:K02137]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600828
Network
nt06529  Thermogenesis
Disease
H01369  ATP synthase deficiency
Reference
  Authors
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaec N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK
  Title
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
  Journal
J Inherit Metab Dis 45:996-1012 (2022)
DOI:10.1002/jimd.12526
LinkDB

KEGG   VARIANT: 513v1
Entry
513v1                      Variant                                 
Name
ATP5F1D mutation
Gene
ATP5F1D  ATP synthase F1 subunit delta [KO:K02134]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603150
Network
nt06529  Thermogenesis
Disease
H01369  ATP synthase deficiency
Reference
  Authors
Olahova M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Fresard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT
  Title
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
  Journal
Am J Hum Genet 102:494-504 (2018)
DOI:10.1016/j.ajhg.2018.01.020
LinkDB

KEGG   VARIANT: 514v1
Entry
514v1                      Variant                                 
Name
ATP5F1E mutation
Gene
ATP5F1E  ATP synthase F1 subunit epsilon [KO:K02135]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606153
Network
nt06529  Thermogenesis
Disease
H01369  ATP synthase deficiency
Reference
  Authors
Mayr JA, Havlickova V, Zimmermann F, Magler I, Kaplanova V, Jesina P, Pecinova A, Nuskova H, Koch J, Sperl W, Houstek J
  Title
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
  Journal
Hum Mol Genet 19:3430-9 (2010)
DOI:10.1093/hmg/ddq254
LinkDB

KEGG   VARIANT: 498v1
Entry
498v1                      Variant                                 
Name
ATP5F1A mutation
Gene
ATP5F1A  ATP synthase F1 subunit alpha [KO:K02132]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 164360
Network
nt06529  Thermogenesis
Disease
H01369  ATP synthase deficiency
Reference
  Authors
Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ
  Title
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
  Journal
Brain 136:1544-54 (2013)
DOI:10.1093/brain/awt086
LinkDB

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