ATP5F1A

ATP synthase F1 subunit alpha

HCNC Approved Symbol

ATP5F1A (HGNC:823)

Genomic Coordinates

18:46,080,248 - 46,104,227 (18q21.1)

Synonyms

ATP5A, hATP1, OMR, ORM, ATP5AL2, ATPM, ATP5A1

Disease Associations

This gene is associated with the following 3 diseases in OMIM.

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Disease NameOMIM IDInheritance

?Combined oxidative phosphorylation deficiency 22

616045AR

?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type

615228AR

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A

620358AD