COQ8A across dismech

COQ8A (coenzyme Q8A) is named by 2 disorder entries.

Normal function

ai-gene-review gives COQ8A's core molecular functions as ATP binding; and ATP hydrolysis activity, acting in ubiquinone biosynthetic process. Despite its protein-kinase-like fold and its older name ADCK3, COQ8A is recorded with ATPase activity, not protein kinase activity: it supports the CoQ biosynthetic complex rather than catalysing a named chemical step of the pathway. The upstream review is being updated to place COQ8A in the ubiquinone biosynthesis complex and the mitochondrial inner membrane; the pinned ingest snapshot still carries the earlier, more generic terms.

Causative records

Two entries type COQ8A as causative: Autosomal Recessive Ataxia Due to Ubiquinone Deficiency; and Primary Coenzyme Q10 Deficiency. Primary Coenzyme Q10 Deficiency records the variants as germline. There the gene sits on Defective COQ8 Kinase Support of CoQ10 Biosynthesis, together with its paralogue COQ8B, and on the shared node Defective CoQ10 Biosynthesis.

The ataxia entry

The entry for the ataxia COQ8A causes, Autosomal Recessive Ataxia Due to Ubiquinone Deficiency, types the gene as causative with a germline origin, and places it on COQ8A-Dependent Coenzyme Q10 Deficiency.

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 COQ8A for 0 diseases in the cached snapshot.