Curated summary · agent-written · kb/genes/curated/hgnc_2244.md

All 13 claims checked against the KB draft

COQ7 across dismech

COQ7 (coenzyme Q7, hydroxylase) is named by 1 disorder entry.

Normal function

ai-gene-review gives COQ7's core molecular functions as 3-demethoxyubiquinone 3-hydroxylase (NADH) activity; and iron ion binding, acting in ubiquinone biosynthetic process at the mitochondrial inner membrane. COQ7 is the NADH-dependent di-iron hydroxylase of the penultimate step, acting on the quinone demethoxyubiquinone; its lipophilic substrate is presented by COQ9. The upstream review is being updated to treat iron ion binding as the cofactor of that activity rather than a separate core function.

Causative records

One entry types COQ7 as causative: Primary Coenzyme Q10 Deficiency, with a germline origin. There the gene sits on Defective Benzoquinone Head-Group Modification and 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 COQ7 for 1 disease with no matching dismech entry: distal hereditary motor neuropathy.

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 (Q99807, 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: COQ7 scoped to subtype: COQ7

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
distal hereditary motor neuropathy MONDO:0018894	AR	Strong 2026-03-31	no dismech entry