AP1S2 encodes adaptor related protein complex 1 subunit sigma 2 (157 aa). Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. Highest expression in Nerve Tibial (42.5 TPM) and Uterus (38.3 TPM).

Syndromic X-linked intellectual disability 5 is associated with mutations in the AP1S2 gene on chromosome X.

The AP1S2 protein participates in MITF-M-dependent TRPM1 expression pathway.

AP1S2 is classified as a druggable target with score 0.0.

Genetic testing for AP1S2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for syndromic X-linked intellectual disability 5 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 23 very common features, 7 common features.

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

No clinical trials have been registered for syndromic X-linked intellectual disability 5.

223 publications have been identified in PubMed for syndromic X-linked intellectual disability 5. Research spans Basic Science / Preclinical (33%), Epidemiology / Natural History (19%), and Case Report / Case Series (19%).

Recent Publications

• Guillon M (2026). [PMID: 42030940](https://pubmed.ncbi.nlm.nih.gov/42030940/). *Stem Cell Reports*. [Basic Science / Preclinical]

• De Stefano LA (2026). [PMID: 41922399](https://pubmed.ncbi.nlm.nih.gov/41922399/). *Sci Rep*. [Clinical Trial Publication]

• Boussetta A (2026). [PMID: 41501258](https://pubmed.ncbi.nlm.nih.gov/41501258/). *Pediatr Nephrol*. [Case Report / Case Series]

• Rishabh RK (2026). [PMID: 42220602](https://pubmed.ncbi.nlm.nih.gov/42220602/). *JCEM Case Rep*. [Case Report / Case Series]

• Du Y (2026). [PMID: 41501339](https://pubmed.ncbi.nlm.nih.gov/41501339/). *Sci Rep*. [Basic Science / Preclinical]

• Möhrle D (2026). [PMID: 41399120](https://pubmed.ncbi.nlm.nih.gov/41399120/). *Autism Res*. [Epidemiology / Natural History]

• Efrat K (2026). [PMID: 41797617](https://pubmed.ncbi.nlm.nih.gov/41797617/). *Quintessence Int*. [Case Report / Case Series]

• Hourani SM (2026). [PMID: 41923202](https://pubmed.ncbi.nlm.nih.gov/41923202/). *J Neurodev Disord*. [Basic Science / Preclinical]

• Li X (2026). [PMID: 42087737](https://pubmed.ncbi.nlm.nih.gov/42087737/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]

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