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MT001677

Record overview

MITO ID	MT001677
Gene ID	493753
Species	Homo sapiens (Human)
Gene Name	cytochrome c oxidase assembly factor 5
Gene Symbol	COA5
Synonyms	Pet191; C2orf64; 6330578E17Rik;
Alternate names	cytochrome c oxidase assembly factor 5; protein C2orf64;
Chromosome	2
Map Location	2q11.2
Summary	This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]
Orthologs	View orthologs and multiple alignments for COA5

Proteins

cytochrome c oxidase assembly factor 5

Refseq ID:	NP_001008216
Protein GI:	56118949
UniProt ID:	Q86WW8
mRNA ID:	NM_001008215
Length:	74
RefSeq Status:

`MPKYYEDKPQGGACAGLKEDLGACLLQSDCVVQEGKSPRQCLKEGYCNSLKYAFFECKRSVLDNRARFRGRKGY`