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Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:46 AM UTC
Online Mendelian Inheritance in Man
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Delayed speech and language development, Seizure, Autistic behavior |
Digestive system | 1 | Feeding difficulties |
NAA15 encodes N-alpha-acetyltransferase 15, NatA auxiliary subunit (866 aa). Auxillary subunit of N-terminal acetyltransferase complexes which display alpha (N-terminal) acetyltransferase (NAT) activity. Highest expression in Cells EBV-transformed lymphocytes (28.7 TPM) and Cells Cultured fibroblasts (23.7 TPM).
Intellectual disability, autosomal dominant 50 is associated with mutations in the NAA15 gene on chromosome 4.
NAA15 is classified as a druggable target (Transcription Factor Complex category) with score 0.0.
Genetic testing for NAA15 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for intellectual disability, autosomal dominant 50 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature, 2 very common features, 1 common feature.
No clinical trials have been registered for intellectual disability, autosomal dominant 50.
53 publications have been identified in PubMed for intellectual disability, autosomal dominant 50. Kisho has analyzed 6 by research type. Research spans Basic Science / Preclinical (33%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).
Xuan X (2026). [PMID: 42091191](https://pubmed.ncbi.nlm.nih.gov/42091191/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Selvanayagam T (2025). [PMID: 40169255](https://pubmed.ncbi.nlm.nih.gov/40169255/). *J Med Genet*. [Diagnostic / Biomarker]
Malhotra A (2025). [PMID: 40195116](https://pubmed.ncbi.nlm.nih.gov/40195116/). *HGG Adv*. [Basic Science / Preclinical]
Ademuwagun IA (2025). [PMID: 39570184](https://pubmed.ncbi.nlm.nih.gov/39570184/). *Epilepsia Open*. [Epidemiology / Natural History]
McTiernan N (2025). [PMID: 39814713](https://pubmed.ncbi.nlm.nih.gov/39814713/). *Nat Commun*. [Review / Meta-Analysis]
Sun H (2024). [PMID: 39415983](https://pubmed.ncbi.nlm.nih.gov/39415983/). *Front Genet*. [Basic Science / Preclinical]