COQ6 across dismech

COQ6 (coenzyme Q6, monooxygenase) is named by 2 disorder entries.

Normal function

ai-gene-review gives COQ6's core molecular functions as 2-methoxy-6-polyprenolphenol 4-hydroxylase activity; 4-hydroxy-3-all-trans-polyprenylbenzoate oxygenase activity; and FAD binding, acting in ubiquinone biosynthetic process at the mitochondrial inner membrane. COQ6 is the flavin-dependent ring monooxygenase of coenzyme Q biosynthesis, performing both the C5 and the C1 hydroxylations of the head group. The upstream review is being updated to list only the two hydroxylase activities as core and to treat FAD binding as a supporting cofactor-binding activity; the pinned ingest snapshot still includes it.

Causative records

Both entries type COQ6 as causative: COQ6-Related Steroid-Resistant Nephrotic Syndrome with Sensorineural Deafness; and Primary Coenzyme Q10 Deficiency. Primary Coenzyme Q10 Deficiency records the variants as germline and ClinGen classifies the gene for that disease as definitive. There 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 nephrotic syndrome entry places COQ6 on Deficient C5-Ring Hydroxylation in CoQ10 Biosynthesis; its genetic record gives the variant origin as germline.

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.