COX6A2, cytochrome c oxidase subunit 6A2, 1339

N. diseases: 1; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.020 GeneticVariation disease BEFREE This study indicates that biallelic variants in COX6A2 cause a striated muscle-specific form of COX deficiency.ANN NEUROL 2019;86:193-202. 31155743 2019
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.020 Biomarker disease BEFREE We also found that Cox6a and Cox7a are incorporated into a novel intermediate complex of approximately 250 kDa, and that transition of subunits from this complex to the mature holoenzyme had stalled in the mitochondria of patients with isolated complex IV deficiency. 19843159 2009