ATP6AP2 encodes ATPase H+ transporting accessory protein 2 (350 aa). Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system. Highest expression in Cells Cultured fibroblasts (171.6 TPM) and Artery Aorta (154.4 TPM).

Syndromic X-linked intellectual disability Hedera type is associated with mutations in the ATP6AP2 gene on chromosome X.

The ATP6AP2 protein participates in Metabolism of Angiotensinogen to Angiotensins pathway.

ATP6AP2 is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Transporter categories) with score 0.0.

Genetic testing for ATP6AP2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for syndromic X-linked intellectual disability Hedera type has been reported in the published literature.

Phenotype severity distribution: 10 always present features, 2 very common features, 10 common features.

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

No clinical trials have been registered for syndromic X-linked intellectual disability Hedera type.

121 publications have been identified in PubMed for syndromic X-linked intellectual disability Hedera type. Research spans Case Report / Case Series (34%), Basic Science / Preclinical (23%), and Review / Meta-Analysis (17%).

Recent Publications

• Bergdolt L (2026). [PMID: 41850340](https://pubmed.ncbi.nlm.nih.gov/41850340/). *Neurobiol Dis*. [Basic Science / Preclinical]

• Duan H (2026). [PMID: 42244324](https://pubmed.ncbi.nlm.nih.gov/42244324/). *Zhong Nan Da Xue Xue Bao Yi Xue Ban*. [Review / Meta-Analysis]

• Miller JS (2026). [PMID: 41260060](https://pubmed.ncbi.nlm.nih.gov/41260060/). *Pediatr Neurol*. [Epidemiology / Natural History]

• Dutta D (2026). [PMID: 41741118](https://pubmed.ncbi.nlm.nih.gov/41741118/). *BMJ Case Rep*. [Case Report / Case Series]

• Boeri S (2026). [PMID: 41724124](https://pubmed.ncbi.nlm.nih.gov/41724124/). *Epilepsy Behav*. [Case Report / Case Series]

• Pan X (2026). [PMID: 41764152](https://pubmed.ncbi.nlm.nih.gov/41764152/). *J Mol Med (Berl)*. [Epidemiology / Natural History]

• Aydin Gumus A (2026). [PMID: 41384780](https://pubmed.ncbi.nlm.nih.gov/41384780/). *Psychiatr Genet*. [Case Report / Case Series]

• Delinière A (2026). [PMID: 41242588](https://pubmed.ncbi.nlm.nih.gov/41242588/). *Heart Rhythm*. [Case Report / Case Series]

• Semyachkina AN (2026). [PMID: 41917976](https://pubmed.ncbi.nlm.nih.gov/41917976/). *J Med Case Rep*. [Case Report / Case Series]

• Ślusarczyk K (2026). [PMID: 41581294](https://pubmed.ncbi.nlm.nih.gov/41581294/). *Mol Genet Metab*. [Case Report / Case Series]