COQ8A (coenzyme Q8A)

2016-11-01  

Identity

HGNC
COQ8A
LOCATION
1q42.13
LOCUSID
56997
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
50
100
150
200
250
300
350
400
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
336226672021Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.4
336226672021Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review.4
323377712020Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.24
323377712020Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.24
309683032019Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.10
309683032019Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.10
268663752016AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation.13
274992942016Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.52
268663752016AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation.13
274992942016Cerebellar Ataxia and Coenzyme Q Deficiency through Loss of Unorthodox Kinase Activity.52
254981442015Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.57
255409142015Preparation and characterization of human ADCK3, a putative atypical kinase.4
254981442015Mitochondrial ADCK3 employs an atypical protein kinase-like fold to enable coenzyme Q biosynthesis.57
255409142015Preparation and characterization of human ADCK3, a putative atypical kinase.4
252163982014A Gly-zipper motif mediates homodimerization of the transmembrane domain of the mitochondrial kinase ADCK3.10

Citation

Dessen P

COQ8A (coenzyme Q8A)

Atlas Genet Cytogenet Oncol Haematol. 2016-11-01

Online version: http://atlasgeneticsoncology.org/gene/78611/css/gene-explorer/css/card-gene.css