KEGG   VARIANT: 1340v1
Entry
1340v1                      Variant                                
Name
COX6B1 mutation
Gene
COX6B1  cytochrome c oxidase subunit 6B1 [KO:K02267]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 124089
Network
nt06529  Thermogenesis
Disease
H01368  Cytochrome c oxidase (COX) deficiency
Reference
PMID:24781756
  Authors
Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A
  Title
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.
  Journal
Eur J Hum Genet 23:159-64 (2015)
DOI:10.1038/ejhg.2014.85
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