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MT001419

UniProt Annotations

Entry Information

Gene Name	cytochrome c oxidase subunit IV isoform 2 (lung)
Protein Entry	COX42_HUMAN
UniProt ID	Q96KJ9
Species	Human

Comments

Comment type	Description
Disease	Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]: Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. {ECO:0000269\|PubMed:19268275}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport.
Similarity	Belongs to the cytochrome c oxidase IV family. {ECO:0000305}.
Subcellular Location	Mitochondrion inner membrane.
Tissue Specificity	Highly expressed in lung.