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Gene : COX6B1 Homo sapiens

Name  ? cytochrome c oxidase subunit 6B1 Cytological Location  19q13.12
Brief Description  cytochrome c oxidase subunit 6B1
Description  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]
  • synonyms:
  • COXG,
  • NM_001863,
  • cytochrome c oxidase subunit Vib,
  • COX6B,
  • COXG,
  • COXVIb1,
  • COX6B1,
  • uc002oav.4,
  • cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous),
  • HGNC:2280,
  • OTTHUMG00000048112,
  • cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous),
  • COX6B,
  • MC4DN7,
  • BC001015
  • identifiers:
  • 1340,
  • ENSG00000126267,
  • COX6B1

Genome feature

Region: gene ? Length: 10460  
Location: 19:35648323-35658782 Cyto location: 19q13.12


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Proteins

Gene --> Proteins.

SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

3740 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results