AAGAB encodes alpha and gamma adaptin binding protein (315 aa). May be involved in endocytic recycling of growth factor receptors such as EGFR Highest expression in Testis (34.2 TPM) and Pituitary (33.1 TPM).

Palmoplantar keratoderma, punctate type 1A is associated with mutations in the AAGAB gene on chromosome 15.

AAGAB is classified as a druggable target with score 0.0.

13 pathogenic variants reported in AAGAB in ClinVar, including hotspot variant NP_001258814.1:p.Arg15Ter (2-star review).

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

Phenotype severity distribution: 1 always present feature.

No clinical trials have been registered for palmoplantar keratoderma, punctate type 1A.

5 publications have been identified in PubMed for palmoplantar keratoderma, punctate type 1A. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Epidemiology / Natural History (20%).

Recent Publications

• Wu J (2025). [PMID: 40938986](https://pubmed.ncbi.nlm.nih.gov/40938986/). *Sci Adv*. [Basic Science / Preclinical]

• Mastrangelo M (2025). [PMID: 40492104](https://pubmed.ncbi.nlm.nih.gov/40492104/). *JAAD Case Rep*. [Case Report / Case Series]

• Gram SB (2025). [PMID: 39630431](https://pubmed.ncbi.nlm.nih.gov/39630431/). *JAMA Dermatol*. [Case Report / Case Series]

• Wan C (2024). [PMID: 39145939](https://pubmed.ncbi.nlm.nih.gov/39145939/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

• Gram SB (2024). [PMID: 38311882](https://pubmed.ncbi.nlm.nih.gov/38311882/). *Clin Genet*. [Epidemiology / Natural History]