Aliases for COX6B1 Gene
External Ids for COX6B1 Gene
Previous HGNC Symbols for COX6B1 Gene
Previous GeneCards Identifiers for COX6B1 Gene
Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It 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 be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]
GeneCards Summary for COX6B1 Gene
COX6B1 (Cytochrome C Oxidase Subunit 6B1) is a Protein Coding gene. Diseases associated with COX6B1 include Mitochondrial Complex Iv Deficiency and Isolated Cytochrome C Oxidase Deficiency. Among its related pathways are Gene Expression and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include cytochrome-c oxidase activity. An important paralog of this gene is COX6B2.
UniProtKB/Swiss-Prot for COX6B1 Gene
Connects the two COX monomers into the physiological dimeric form.