COQ4 across dismech

COQ4 (coenzyme Q4) is named by 2 disorder entries.

Normal function

ai-gene-review gives COQ4's core molecular functions as 4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase activity; and zinc ion binding, acting in ubiquinone biosynthetic process. COQ4 is therefore both a catalytic enzyme, the zinc-dependent C1 decarboxylase of the coenzyme Q head group, and a subunit of the CoQ biosynthetic complex.

Causative records

Both entries type COQ4 as causative: COQ4-Related Neonatal Encephalomyopathy; and Primary Coenzyme Q10 Deficiency. Both record the variants as germline (COQ4-Related Neonatal Encephalomyopathy; and Primary Coenzyme Q10 Deficiency).

In Primary Coenzyme Q10 Deficiency the gene sits on Defective Benzoquinone Head-Group Modification, the node for the ring-modifying enzymes, and on the shared node Defective CoQ10 Biosynthesis. The gene-specific entry places it on COQ4 Loss of Function and CoQ Synthome Destabilization, whose name reflects the older view of COQ4 as a structural organizer of the complex rather than its catalytic decarboxylase role.

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 COQ4 for 1 disease with no matching dismech entry: mitochondrial disease. That lumped disease is broader than either COQ4 entry, so its tier is not copied onto them.