COX6A1 encodes cytochrome c oxidase subunit 6A1 (109 aa). Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. Highest expression in Brain Frontal Cortex BA9 (700.7 TPM) and Brain Anterior cingulate cortex BA24 (680.7 TPM).

Charcot-Marie-Tooth disease recessive intermediate D is associated with mutations in the COX6A1 gene on chromosome 12.

COX6A1 is classified as a druggable target (Enzyme category) with score 2.6.

Genetic testing for COX6A1 is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Charcot-Marie-Tooth disease recessive intermediate D.

4 publications have been identified in PubMed for Charcot-Marie-Tooth disease recessive intermediate D. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (25%).

Recent Publications

• Cai Q (2026). [PMID: 41044399](https://pubmed.ncbi.nlm.nih.gov/41044399/). *J Hum Genet*. [Case Report / Case Series]

• Cortese A (2025). [PMID: 39938083](https://pubmed.ncbi.nlm.nih.gov/39938083/). *Brain*. [Epidemiology / Natural History]

• Cashman CR (2025). [PMID: 40400204](https://pubmed.ncbi.nlm.nih.gov/40400204/). *Ann Clin Transl Neurol*. [Basic Science / Preclinical]

• Wilhelm SDP (2024). [PMID: 39352000](https://pubmed.ncbi.nlm.nih.gov/39352000/). *IUBMB Life*. [Case Report / Case Series]