mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

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Summary

Literature (0)

DOID:0050768 - mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Disease Ontology Definition:A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATPAF2 gene on chromosome 17p11.

Synonyms: MC5DN1,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: atpaf2

OMIM:

MIM:604273 - mitochondrial complex v (atp synthase) deficiency, nuclear type 1; mc5dn1 mitochondrial complex v (atp synthase) deficiency, atpaf2 type

MIM:604273 - mitochondrial complex v (atp synthase) deficiency, nuclear type 1; mc5dn1 mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): mitochondrial complex V (ATP synthase) deficiency (is_a)