rs137872711
This variant is located in the COQ8A gene.
▶ClinVar annotation
not specified; Autosomal recessive ataxia due to ubiquinone deficiency; Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type; not provided
View on ClinVar →About COQ8A
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. [provided by RefSeq, Jul 2008]
View all COQ8A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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