Cytochrome c oxidase subunit 4 isoform 1, mitochondrial (COX4I1) is an enzyme that in humans is encoded by the COX4I1 gene. COX4I1 is a nuclear-encoded isoform of cytochrome c oxidase (COX) subunit 4. Cytochrome c oxidase (complex IV) is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane, acting as the terminal enzyme of the mitochondrial respiratory chain.[5][6][7] Antibodies against COX4 can be used to identify the inner membrane of mitochondria in immunofluorescence studies.[8] Mutations in COX4I1 have been associated with COX deficiency and Fanconi anemia.[9][10]
^ abcGRCh38: Ensembl release 89: ENSG00000131143 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000031818 – Ensembl, May 2017
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^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Entrez Gene: COX4I1 cytochrome c oxidase subunit IV isoform 1". This article incorporates text from this source, which is in the public domain.
^Zeviani M, Nakagawa M, Herbert J, Lomax MI, Grossman LI, Sherbany AA, Miranda AF, DiMauro S, Schon EA (Dec 1987). "Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase". Gene. 55 (2–3): 205–17. doi:10.1016/0378-1119(87)90281-2. PMID 2444497.
^Lomax MI, Welch MD, Darras BT, Francke U, Grossman LI (February 1990). "Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV". Gene. 86 (2): 209–16. doi:10.1016/0378-1119(90)90281-U. PMID 2157630.
^"Anti-COX4 antibody (GTX101499) | GeneTex".
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oxidase subunit 4 isoform 1, mitochondrial (COX4I1) is an enzyme that in humans is encoded by the COX4I1 gene. COX4I1 is a nuclear-encoded isoform of cytochrome...
modification. A Glu138 residue, which corresponds to a Glu136 residue in COX4I1, is believed to be highly conserved and structurally important for the mitochondrial...
referred to as Cox4AL, Noc4, and Fam158b. The paralog partially overlaps COX4I1 and has two isoforms. Isoform 1 is the complete isoform at 210 amino acids...
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