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

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

: atpaf2

MIM:

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: Alliance, 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)