MitoProteome Database

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MT001462

UniProt Annotations

Entry Information

Gene Name	ATP synthase mitochondrial F1 complex assembly factor 2
Protein Entry	ATPF2_HUMAN
UniProt ID	Q8N5M1
Species	Human

Comments

Comment type	Description
Disease	Mitochondrial complex V deficiency, nuclear 1 (MC5DN1) [MIM:604273]: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. {ECO:0000269\|PubMed:14757859}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase). {ECO:0000269\|PubMed:11410595}.
Sequence Caution	Sequence=AAP34466.1; Type=Frameshift; Positions=87; Evidence={ECO:0000305};
Similarity	Belongs to the ATP12 family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000305}.
Subunit	Interacts with ATP5A1. {ECO:0000269\|PubMed:11410595}.
Tissue Specificity	Widely expressed. {ECO:0000269\|PubMed:11410595}.