Coenzyme 9

Alternative Names

  • COQ9
  • COQ9, S. Cerevisiae, Homolog of
  • Chromosome 16 Open Reading Frame 49
  • C16ORF49
Back to search Result
OMIM Number

612837

NCBI Gene ID

57017

Uniprot ID

O75208

Length

13,851 bases

No. of Exons

9

No. of isoforms

2

Protein Name

Ubiquinone biosynthesis protein COQ9, mitochondrial

Molecular Mass

35509 Da

Amino Acid Count

318

Genomic Location

chr16:57,447,425-57,461,275

Gene Map Locus
16q21

Description

This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_020312.4:c.362T>CUnited Arab EmiratesNC_000016.10:g.57452920T>CLikely Benign, Uncertain SignificanceLikely BenignNG_027696.1:g.10496T>C; NM_020312.4:c.362T>C; NP_064708.1:p.Ile121Thr547254482214245
© CAGS 2024. All rights reserved.