Aliases for COQ8B Gene
External Ids for COQ8B Gene
Previous HGNC Symbols for COQ8B Gene
This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
GeneCards Summary for COQ8B Gene
COQ8B (Coenzyme Q8B) is a Protein Coding gene. Diseases associated with COQ8B include Nephrotic Syndrome, Type 9 and Familial Idiopathic Steroid-Resistant Nephrotic Syndrome With Focal Segmental Hyalinosis. An important paralog of this gene is COQ8A.
UniProtKB/Swiss-Prot for COQ8B Gene
Atypical kinase involved in the biosynthesis of coenzyme Q, also named ubiquinone, an essential lipid-soluble electron transporter for aerobic cellular respiration (PubMed:24270420). Its substrate specificity is unclear: does not show any protein kinase activity. Probably acts as a small molecule kinase, possibly a lipid kinase that phosphorylates a prenyl lipid in the ubiquinone biosynthesis pathway. Required for podocyte migration (PubMed:24270420).