NEU1 encodes neuraminidase 1 (415 aa). Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex.

Sialidosis type 2 is associated with mutations in the NEU1 gene on chromosome 6.

NEU1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for NEU1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for sialidosis type 2 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 19 very common features, 7 common features.

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

3 clinical trials registered, 1 recruiting. Interventions under study include other interventions and biologic therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

28 publications have been identified in PubMed for sialidosis type 2. Research spans Review / Meta-Analysis (36%), Basic Science / Preclinical (29%), and Case Report / Case Series (21%).

Recent Publications

• Ada E (2026). [PMID: 41665755](https://pubmed.ncbi.nlm.nih.gov/41665755/). *Cell Tissue Res*. [Basic Science / Preclinical]

• Lee JJ (2026). [PMID: 41582713](https://pubmed.ncbi.nlm.nih.gov/41582713/). *Dis Model Mech*. [Basic Science / Preclinical]

• Sun XL (2026). [PMID: 41352710](https://pubmed.ncbi.nlm.nih.gov/41352710/). *Life Sci*. [Review / Meta-Analysis]

• Itoh K (2026). [PMID: 41917397](https://pubmed.ncbi.nlm.nih.gov/41917397/). *Adv Exp Med Biol*. [Review / Meta-Analysis]

• Cherian A (2026). [PMID: 41817056](https://pubmed.ncbi.nlm.nih.gov/41817056/). *Neurol India*. [Review / Meta-Analysis]

• Gburek-Augustat J (2026). [PMID: 41665440](https://pubmed.ncbi.nlm.nih.gov/41665440/). *Epilepsia Open*. [Review / Meta-Analysis]

• Jeffreys N (2026). [PMID: 41490796](https://pubmed.ncbi.nlm.nih.gov/41490796/). *J Inherit Metab Dis*. [Case Report / Case Series]

• Tew TB (2026). [PMID: 42011900](https://pubmed.ncbi.nlm.nih.gov/42011900/). *J Inherit Metab Dis*. [Diagnostic / Biomarker]

• Casazza K (2026). [PMID: 42008923](https://pubmed.ncbi.nlm.nih.gov/42008923/). *Mol Genet Metab*. [Review / Meta-Analysis]

• Zhou X (2025). [PMID: 40468413](https://pubmed.ncbi.nlm.nih.gov/40468413/). *Acta Epileptol*. [Case Report / Case Series]