COQ8A (coenzyme Q8A)

2016-11-01  

Identity

HGNC
LOCATION
1q42.13
LOCUSID
ALIAS
ADCK3,ARCA2,CABC1,COQ10D4,COQ8,SCAR9

Other Information

Locus ID:

NCBI: 56997
MIM: 606980
HGNC: 16812
Ensembl: ENSG00000163050

Variants:

dbSNP: 56997
ClinVar: 56997
TCGA: ENSG00000163050
COSMIC: COQ8A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163050ENST00000366777Q8NI60
ENSG00000163050ENST00000366777A0A024R3S3
ENSG00000163050ENST00000366778Q8NI60
ENSG00000163050ENST00000366779Q8NI60
ENSG00000163050ENST00000366779A0A024R3S3

Expression (GTEx)

0
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100
150
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400

References

Pubmed IDYearTitleCitations
183190742008ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.93
183190722008CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.77
254981442015Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.33
274992942016Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.29
220368502012Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.28
118888842002Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
252163982014A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3.8
268663752016AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation.6
255409142015Preparation and characterization of human ADCK3, a putative atypical kinase.3

Citation

Dessen P

COQ8A (coenzyme Q8A)

Atlas Genet Cytogenet Oncol Haematol. 2016-11-01

Online version: http://atlasgeneticsoncology.org/gene/78611/coq8a