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Gene : COX6A1 Homo sapiens

Name  ? cytochrome c oxidase subunit 6A1 Cytological Location  12q24.31|12q24.2
Brief Description  cytochrome c oxidase subunit 6A1
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 the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]
  • synonyms:
  • OTTHUMG00000047791,
  • X15341,
  • HGNC:2277,
  • COX6A,
  • COX6A1,
  • NM_004373,
  • COX6AL,
  • cytochrome c oxidase subunit VIa polypeptide 1,
  • CMTRID,
  • COX6A,
  • uc001tyf.2
  • identifiers:
  • 1337,
  • ENSG00000111775,
  • COX6A1

Genome feature

Region: gene ? Length: 2618  
Location: 12:120438113-120440730 Cyto location: 12q24.31|12q24.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

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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]

Homology

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Expression

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Other

3753 SN Ps

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results