cytochrome c oxidase subunit 4 isoform 2, mitochondrial; cytochrome c oxidase subunit IV isoform 2; COX IV-2 (COX4I2 COX4L2)

Function

• one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport

Structure

• belongs to the cytochrome c oxidase IV family

Compartment

mitochondrial inner membrane

Expression

highly expressed in lung

Pathology

• defects in COX4I2 are the cause of EPIDACH (exocrine pancreatic insufficiency dyserythropoietic anemia & calvarial hyperostosis)

More general terms

• cytochrome c oxidase subunit

Component of

• cytochrome c oxidase (complex IV)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=84701
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:84701
• OMIM: https://mirror.omim.org/entry/607976
• OMIM: https://mirror.omim.org/entry/612714
• UniProt: http://www.uniprot.org/uniprot/Q96KJ9.html