Gene: COQ8A

Alternate names for this Gene: ADCK3|ARCA2|CABC1|COQ10D4|COQ8|SCAR9

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.13

Description of this Gene: coenzyme Q8A

Type of Gene: protein-coding

rs17592479 in COQ8A gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs17592479 in COQ8A gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs17592479 in COQ8A gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs17592479 in COQ8A gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1057519344 in COQ8A gene and SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 9 PMID 24164873 2013 Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.

PMID 18319074 2008 ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency.

PMID 27106809 2016 ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

PMID 24218524 2014 Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.

PMID 25498144 2015 Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.

PMID 22036850 2012 Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.

PMID 18319072 2008 CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.

PMID 20580948 2010 Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy.

PMID 26818466 2016 Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.

PMID 24048965 2014 Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.

PMID 26640698 2015 Mitochondrial pathology in progressive cerebellar ataxia.

rs6426558 in COQ8A gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs16846735 in COQ8A gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.