AAAS encodes aladin WD repeat nucleoporin (546 aa). Plays a role in the normal development of the peripheral and central nervous system.

Triple-A syndrome is associated with mutations in the AAAS gene on chromosome 12.

The AAAS protein participates in AFG3L2 (m-AAA protease) degrades SMDT1 that is not assembled in MCU and PGRMC2:Hemes translocate to the nucleus pathways.

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

57 pathogenic variants reported in AAAS in ClinVar, including hotspot variants 264994 (2-star review) and 264993.

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

Biomarker and diagnostic research for triple-A syndrome has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature.

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

No clinical trials have been registered for triple-A syndrome.

21 publications have been identified in PubMed for triple-A syndrome. Research spans Case Report / Case Series (57%), Epidemiology / Natural History (14%), and Review / Meta-Analysis (10%).

Recent Publications

• Juścińska E (2026). [PMID: 41498959](https://pubmed.ncbi.nlm.nih.gov/41498959/). *Neurogenetics*. [Epidemiology / Natural History]

• Siokas V (2026). [PMID: 42091675](https://pubmed.ncbi.nlm.nih.gov/42091675/). *Neurogenetics*. [Case Report / Case Series]

• Sheikh MM (2026). [PMID: 32809536](https://pubmed.ncbi.nlm.nih.gov/32809536/). *Unknown Journal*. [Review / Meta-Analysis]

• Faria N (2026). [PMID: 42055466](https://pubmed.ncbi.nlm.nih.gov/42055466/). *Endocrinol Diabetes Metab Case Rep*. [Case Report / Case Series]

• Salame H (2026). [PMID: 41560097](https://pubmed.ncbi.nlm.nih.gov/41560097/). *Medicine*. [Case Report / Case Series]

• Kushwaha DS (2025). [PMID: 41426934](https://pubmed.ncbi.nlm.nih.gov/41426934/). *Cureus*. [Case Report / Case Series]

• Boz PB (2025). [PMID: 40476452](https://pubmed.ncbi.nlm.nih.gov/40476452/). *Ideggyogyaszati szemle*. [Case Report / Case Series]

• Bozkına AÇ (2025). [PMID: 41020932](https://pubmed.ncbi.nlm.nih.gov/41020932/). *Revista espanola de enfermedades digestivas*. [Case Report / Case Series]

• Singhal N (2025). [PMID: 39926264](https://pubmed.ncbi.nlm.nih.gov/39926264/). *Radiology case reports*. [Case Report / Case Series]

• Bozkına AÇ (2025). [PMID: 41128112](https://pubmed.ncbi.nlm.nih.gov/41128112/). *Revista espanola de enfermedades digestivas*. [Clinical Trial Publication]