KEGG   VARIANT: 1537v1
Entry
1537v1                      Variant                                
Name
CYC1 mutation
Gene
CYC1  cytochrome c1 [KO:K00413]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 123980
Network
nt06529  Thermogenesis
Disease
H02086  Mitochondrial complex III deficiency
Reference
  Authors
Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P
  Title
Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
  Journal
Am J Hum Genet 93:384-9 (2013)
DOI:10.1016/j.ajhg.2013.06.015
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