Features include: Inner ear hearing loss (sensorineural hearing impairment) and Abnormal speech discrimination.

ATP11A encodes ATPase phospholipid transporting 11A (1,134 aa). Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the plasma membrane. Highest expression in Lung (45.9 TPM) and Pituitary (26.8 TPM).

Auditory neuropathy, autosomal dominant 2 is associated with mutations in the ATP11A gene on chromosome 13.

ATP11A is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for ATP11A is available. Testing is considered confirmatory for diagnosis.

No clinical trials have been registered for auditory neuropathy, autosomal dominant 2.

4 publications have been identified in PubMed for auditory neuropathy, autosomal dominant 2. Research spans Case Report / Case Series (50%), Clinical Trial Publication (25%), and Epidemiology / Natural History (25%).

Recent Publications

• Miolo G (2025). [PMID: 40040362](https://pubmed.ncbi.nlm.nih.gov/40040362/). *Journal of audiology & otology*. [Case Report / Case Series]

• Yuan YY (2025). [PMID: 40010783](https://pubmed.ncbi.nlm.nih.gov/40010783/). *Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery*. [Clinical Trial Publication]

• Wang H (2025). [PMID: 41107984](https://pubmed.ncbi.nlm.nih.gov/41107984/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]

• Chhajed M (2024). [PMID: 38721572](https://pubmed.ncbi.nlm.nih.gov/38721572/). *Journal of pediatric genetics*. [Case Report / Case Series]