Coenzyme Q8A

Alternative Names

  • COQ8A
  • COQ8, S. cerevisiae, Homolog of
  • COQ8
  • AARF Domain-Containing Kinase 3
  • ADCK3
  • Chaperone-Activity of BC1 Complex-Like
  • CABC1
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OMIM Number

606980

NCBI Gene ID

56997

Uniprot ID

Q8NI60

Length

48,206 bases

No. of Exons

20

No. of isoforms

4

Protein Name

Atypical kinase COQ8A, mitochondrial

Molecular Mass

71950 Da

Amino Acid Count

647

Genomic Location

chr1:226,939,338-226,987,543

Gene Map Locus
1q42.13

Description

This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC transporter proteins. Expression of this gene is induced by the tumor suppressor p53 and in response to DNA damage, and inhibiting its expression partially suppresses p53-induced apoptosis. Alternatively spliced transcript variants have been found; however, their full-length nature has not been determined. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020247.5:c.1534C>TLebanonNC_000001.11:g.226984903C>TUncertain SignificanceLikely PathogenicNG_012825.1:g.49667C>T; NM_020247.5:c.1534C>T; NP_064632.2:p.Arg512Trp1496828991706962
NM_020247.5:c.1744dupSaudi ArabiaNC_000001.11:g.226986537dupLikely PathogenicLikely PathogenicCoenzyme Q10 Deficiency, Primary, 4NG_012825.2:g.94002dup; NM_020247.5:c.1744dup; NP_064632.2:p.Ser582LysfsTer1481553281318183336
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