Previous symbols: COX6A. Aliases: COX6AL.
Cytochrome c oxidase subunit 6A1 (COX6A1) is the liver-type nuclear-encoded COX6A isoform and a supernumerary subunit of mitochondrial Complex IV. It is a single-pass inner mitochondrial membrane component of mature cytochrome c oxidase, with a structural/regulatory role rather than an independent redox catalytic activity. COX6A1 contributes to Complex IV-dependent electron transport and oxidative phosphorylation as part of the intact enzyme, and pathogenic variants cause recessive intermediate Charcot-Marie-Tooth disease with Complex IV dysfunction.
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 |
|---|---|---|
| Charcot-Marie-Tooth Disease Recessive Intermediate D | causative loss of function |
mechanism: Biallelic COX6A1 Loss of Function
|
| Intermediate Charcot-Marie-Tooth Disease | no genetic record |
subtype: RI-CMTD
|
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 | Strong 2024-03-18 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.