gene 572 words KG: COQ8A 2026-03-24
kind:genesection:genesstate:published
Contents

COQ8A Gene - Coenzyme Q Kinase ADCK3

🧬 Gene Info
Gene SymbolCOQ8A
Full NameCoenzyme Q Kinase ADCK3
AliasesADCK3
Chromosome14q24.3
Protein TypeKinase
Functionis a mitochondrial protein kinase belonging to the alpha-kinase family.
Molecular Weight75 kDa
Amino Acids645 aa
GeneCardsCOQ8A
Human Protein AtlasCOQ8A
VariantEffect
c.590G>A (p.R197Q)Missense
c.1657C>T (p.R553X)Nonsense
c.1978G>A (p.G660S)Missense
c.977A>G (p.K326R)Missense
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph