MT-ATP6
mitochondrially encoded ATP synthase membrane subunit 6
Ассоциированные заболевания
Герминативная мутация (причина)7
Leber hereditary optic neuropathyORPHA:104
→NARP syndromeORPHA:644
→Isolated ATP synthase deficiencyORPHA:254913
→Mitochondrial DNA-associated Leigh syndromeORPHA:255210
→Familial infantile bilateral striatal necrosisORPHA:225154
→MT-ATP6-related mitochondrial spastic paraplegiaORPHA:320360
→Periodic paralysis with later-onset distal motor neuropathyORPHA:397750
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