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NEU1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

NEU1 gene

The NEU1 gene provides instructions for making the enzyme neuraminidase 1, which is essential for breaking down large sugar molecules within lysosomes.

Normal Function

The NEU1 gene provides instructions for making an enzyme called neuraminidase 1 (NEU1), which is found in lysosomes. Lysosomes are compartments within cells that use enzymes to digest and recycle materials. The NEU1 enzyme helps break down large sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) by removing a substance known as sialic acid.

Health Conditions Related to Genetic Changes

Sialidosis

At least 42 mutations in the NEU1 gene have been found to cause sialidosis. Most of these mutations change single protein building blocks (amino acids) used to make the NEU1 enzyme. Mutations in the NEU1 gene lead to a shortage (deficiency) of the NEU1 enzyme. When this enzyme is lacking, large molecules that are usually broken down by the NEU1 enzyme accumulate inside lysosomes. Conditions such as sialidosis that cause large molecules to build up inside lysosomes are called lysosomal storage disorders. Mutations that eliminate NEU1 enzyme activity cause more severe signs and symptoms than those that result in some functional enzyme.

Other Names for This Gene

  • acetylneuraminyl hydrolase
  • exo-alpha-sialidase
  • FLJ93471
  • G9 sialidase
  • lysosomal sialidase
  • N-acetyl-alpha-neuraminidase 1
  • NANH
  • NEU
  • NEUR1_HUMAN
  • neuraminidase 1 (lysosomal sialidase)
  • neuraminidase 1 precursor
  • SIAL1
  • sialidase 1
  • sialidase 1 (lysosomal sialidase)

Genomic Location

The NEU1 gene is found on chromosome 6.

Frequently Asked Questions

Sialidosis type I (also known as cherry-red spot-myoclonus syndrome) is a milder, late-onset form that typically appears during adolescence or early adulthood. Patients retain a small amount of residual NEU1 enzyme activity and present with progressive muscle twitches (myoclonus), difficulty coordinating movements (ataxia), vision changes, and a distinctive cherry-red spot in the retina, without bone deformities or intellectual disability. Sialidosis type II is a severe, early-onset form (infantile or juvenile) caused by complete or near-complete loss of enzyme activity; it features coarse facial features, skeletal abnormalities (dysostosis multiplex), enlarged liver and spleen (hepatosplenomegaly), and progressive developmental delays.
Diagnosis requires a combination of biochemical tests and molecular genetic analysis. A clinician typically begins by checking for elevated levels of bound sialic acid (sialyloligosaccharides) in the urine. Definitive confirmation involves measuring neuraminidase enzyme activity in white blood cells (leukocytes) or cultured skin fibroblasts, which will show profound deficiency. Molecular genetic testing identifying two disease-causing mutations in the NEU1 gene confirms the diagnosis and assists with family planning.
Sialidosis is inherited in an autosomal recessive manner. An affected individual has inherited two altered copies of the NEU1 gene, one from each parent. The parents are typically asymptomatic carriers who hold one working copy and one mutated copy. For two carrier parents, each pregnancy carries a 25% chance of having an affected child, a 50% chance of having an asymptomatic carrier child, and a 25% chance of having an unaffected child with two working copies of the gene. Genetic counseling and carrier testing are recommended for family members.
Because there is currently no approved enzyme replacement therapy or gene therapy for NEU1 deficiency, management focuses on symptom relief and optimizing quality of life. Antiseizure and antimyoclonic medications (such as levetiracetam, valproate, or clonazepam) are used to manage movement disorders and seizures, though myoclonus can become treatment-resistant. Physical, occupational, and speech therapies assist with motor decline and communication, while regular examinations by an ophthalmologist, neurologist, and orthopedic specialist help track disease progression and manage complications.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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