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NEU1

NEU1

Reviewed May 2010

What is the official name of the NEU1 gene?

The official name of this gene is “sialidase 1 (lysosomal sialidase).”

NEU1 is the gene's official symbol. The NEU1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the NEU1 gene?

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 an substance known as sialic acid.

How are changes in the NEU1 gene related to health conditions?

sialidosis - caused by mutations in the NEU1 gene

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. It is unclear exactly how the accumulation of large molecules within lysosomes leads to the signs and symptoms of sialidosis.

Where is the NEU1 gene located?

Cytogenetic Location: 6p21.3

Molecular Location on chromosome 6: base pairs 31,859,051 to 31,862,931

The NEU1 gene is located on the short (p) arm of chromosome 6 at position 21.3.

The NEU1 gene is located on the short (p) arm of chromosome 6 at position 21.3.

More precisely, the NEU1 gene is located from base pair 31,859,051 to base pair 31,862,931 on chromosome 6.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about NEU1?

You and your healthcare professional may find the following resources about NEU1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the NEU1 gene or gene products?

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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding NEU1?

acids ; deficiency ; enzyme ; gene ; glycoproteins ; hydrolase ; oligosaccharides ; precursor ; protein ; sialic acid

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: May 2010
Published: October 20, 2014