HUWE1 encodes HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 (4,374 aa). E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of target proteins. Regulates apoptosis by catalyzing the polyubiquitination and degradation of MCL1. Highest expression in Cells EBV-transformed lymphocytes (100.8 TPM) and Cells Cultured fibroblasts (64.7 TPM).

Intellectual disability, X-linked syndromic, Turner type is associated with mutations in the HUWE1 gene on chromosome X.

HUWE1 is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for HUWE1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 3 very common features, 18 common features.

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

3 publications have been identified in PubMed for intellectual disability, X-linked syndromic, Turner type. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

• Li XT (2025). [PMID: 41462142](https://pubmed.ncbi.nlm.nih.gov/41462142/). *BMC Pregnancy Childbirth*. [Epidemiology / Natural History]

• De Falco A (2025). [PMID: 39629746](https://pubmed.ncbi.nlm.nih.gov/39629746/). *Am J Med Genet A*. [Review / Meta-Analysis]

• Zhan X (2024). [PMID: 38664011](https://pubmed.ncbi.nlm.nih.gov/38664011/). *J Neurosci*. [Basic Science / Preclinical]