Curated summary · agent-written · kb/genes/curated/hgnc_25302.md

All 12 claims checked against the KB draft

COQ9 across dismech

COQ9 (coenzyme Q9) is named by 1 disorder entry.

Normal function

ai-gene-review gives COQ9's core molecular functions as isoprenoid binding; lipid binding; and protein homodimerization activity, acting in ubiquinone biosynthetic process. COQ9 has no catalytic activity. It is a lipid-binding protein that presents the hydrophobic demethoxyubiquinone substrate to the COQ7 hydroxylase. The upstream review is being updated to drop homodimerization from the core functions.

Causative records

One entry types COQ9 as causative: Primary Coenzyme Q10 Deficiency, with a germline origin. There the gene sits on Defective Benzoquinone Head-Group Modification, whose description names COQ9 as the lipid-binding partner of COQ7. It also sits on the shared node Defective CoQ10 Biosynthesis.

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 COQ9 for 2 diseases in the cached snapshot. The one with no matching dismech entry is mitochondrial disease.

Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.

Normal function · from ai-gene-review (O75208, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Primary Coenzyme Q10 Deficiency	causative germline	mechanism: Defective Benzoquinone Head-Group Modification; Defective CoQ10 Biosynthesis subtype: COQ9 scoped to subtype: COQ9

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Leigh syndrome MONDO:0009723	AR	Limited 2021-04-09	Leber-like Hereditary Optic Neuropathy, Autosomal Recessive 1 not named Leigh Syndrome not named
mitochondrial disease MONDO:0044970	AR	Definitive 2024-01-29	no dismech entry