COQ8B across dismech

COQ8B (coenzyme Q8B) is named by 2 disorder entries.

Normal function

The pinned ai-gene-review snapshot gives COQ8B's core molecular functions as ATP binding; and protein kinase activity, acting in ubiquinone biosynthetic process. That snapshot predates the completed upstream review, which now records COQ8B, like its paralogue COQ8A, as an ATPase that supports the CoQ biosynthetic complex. It treats the in vitro phosphorylation of COQ3 as a secondary finding rather than the core function. The KB mechanism node already binds ATP hydrolysis activity.

Causative records

One entry types COQ8B as causative: Primary Coenzyme Q10 Deficiency, with a germline origin. There the gene sits on Defective COQ8 Kinase Support of CoQ10 Biosynthesis, together with COQ8A, and on the shared node Defective CoQ10 Biosynthesis.

COQ8B is also named in COQ6-Related Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness, which records it as a modifier.

Where the layers agree and disagree

The KB mechanism nodes and ai-gene-review share ubiquinone biosynthetic process as a GO process by exact identifier.

ClinGen classifies COQ8B for 1 disease with no matching dismech entry: mitochondrial disease. That lumped disease is broader than the dismech entry, so its tier is not copied onto it.