Previous symbols: FAM36A. Aliases: FLJ43269.
COX20 (cytochrome c oxidase assembly factor COX20) is named by 1 disorder entry.
COX20 is a small inner-membrane chaperone that stabilises newly made MT-CO2 and presents it to the SCO1/SCO2 copper metallochaperones. It has no cytochrome-c oxidase activity. ai-gene-review places it in mitochondrial respiratory chain complex IV assembly, located in the mitochondrial inner membrane. The upstream review is being updated to add an adaptor molecular function.
COX20-Related COX Deficiency types COX20 as causative with germline variants. The gene sits on 4 pathophysiology nodes, including COX20 Protein Deficiency.
ClinGen classifies COX20 for 1 disease that has no matching dismech entry: mitochondrial disease. The nodes carrying COX20 share 1 process term with ai-gene-review, mitochondrial respiratory chain complex IV assembly, now that the complex IV assembly node names the gene.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.
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 |
|---|---|---|
| COX20-Related COX Deficiency | causative germline |
mechanism: Aberrant COX20 Splicing; COX20 Protein Deficiency; COX20 Protein Instability; Reduced Complex IV Assembly
|
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 |
|---|---|---|---|
| mitochondrial disease MONDO:0044970 | AR | Definitive 2022-02-17 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.