Aliases for COX11 Gene
Aliases for COX11 Gene
External Ids for COX11 Gene
- HGNC: 2261
- NCBI Gene: 1353
- Ensembl: ENSG00000166260
- OMIM®: 603648
- UniProtKB/Swiss-Prot: Q9Y6N1
Previous GeneCards Identifiers for COX11 Gene
- GC17M052759
- GC17M055510
- GC17M053339
- GC17M053503
- GC17M050384
- GC17M053029
- GC17M048388
Summaries for COX11 Gene
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Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]
GeneCards Summary for COX11 Gene
COX11 (Cytochrome C Oxidase Copper Chaperone COX11) is a Protein Coding gene. Diseases associated with COX11 include Mitochondrial Complex Iv Deficiency, Nuclear Type 23 and Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Gene expression (Transcription). Gene Ontology (GO) annotations related to this gene include electron transfer activity and cytochrome-c oxidase activity. An important paralog of this gene is METTL17.
UniProtKB/Swiss-Prot Summary for COX11 Gene
Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I. ( COX11_HUMAN,Q9Y6N1 )
Additional gene information for COX11 Gene
- HGNC (2261)
- NCBI Gene (1353)
- Ensembl (ENSG00000166260)
- OMIM® (603648)
- UniProtKB/Swiss-Prot (Q9Y6N1)
- Open Targets Platform(ENSG00000166260)
- Alliance of Genome Resources
- Search for COX11 at DataMed
- Search for COX11 at HumanCyc