Cytochrome C Oxidase, Subunit 7B2

Alternative Names

  • COX7B2
  • Cytochrome C Oxidase, Subunit VIIb2

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

609811

NCBI Gene ID

170712

Uniprot ID

Q8TF08

Length

174,419 bases

No. of Exons

8

No. of isoforms

1

Protein Name

Cytochrome c oxidase subunit 7B2, mitochondrial

Molecular Mass

9077 Da

Amino Acid Count

81

Genomic Location

chr4:46,734,826-46,909,244

Gene Map Locus
4p12

Description

Predicted to enable cytochrome-c oxidase activity. Predicted to be involved in electron transport chain; oxidative phosphorylation; and proton transmembrane transport. Predicted to be located in mitochondrial respirasome. Predicted to be integral component of membrane. Predicted to be part of respiratory chain complex IV. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_130902.2:c.-105+23061T>CArab; United Arab Emir...NC_000004.12:g.46886099A>GAssociationType 2 Diabetes MellitusNM_130902.2:c.-105+23061T>C; NP_570972.2:p.?7679715
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