Features include: Hyporeflexia, Steppage gait, Pes cavus, and Distal amyotrophy and 6 more.

ATP1A1 encodes ATPase Na+/K+ transporting subunit alpha 1 (1,023 aa). This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. Highest expression in Thyroid (605.9 TPM) and Brain Cerebellar Hemisphere (554.5 TPM).

Charcot-Marie-tooth disease, axonal, type 2DD has been associated with mutations in the ATP1A1 gene on chromosome 1.

The ATP1A1 protein participates in ATP1A:ATP1B:FXYD exchanges 3Na+ for 2K+ pathway.

ATP1A1 is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Ion Channel, and Transporter categories) with score 10.4.

Genetic testing for ATP1A1 is available. Testing is considered supportive for diagnosis.

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

No clinical trials have been registered for Charcot-Marie-tooth disease, axonal, type 2DD.

1 publication has been identified in PubMed for Charcot-Marie-tooth disease, axonal, type 2DD. Research spans Basic Science / Preclinical (100%).

Recent Publications

• Rincic M (2026). [PMID: 41507769](https://pubmed.ncbi.nlm.nih.gov/41507769/). *Molecular medicine (Cambridge, Mass.)*. [Basic Science / Preclinical]