Reviewed May 2010
What is the official name of the NEU1 gene?
The official name of this gene is “neuraminidase 1 (lysosomal sialidase).”
NEU1 is the gene's official symbol. The NEU1 gene is also known by other names, listed below.
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 31,859,052 to 31,862,932
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/4758))
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 31,859,052 to base pair 31,862,932 on chromosome 6.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28NEU1%5BTIAB%5D%29%20OR%20%28%28neuraminidase%201%5BTIAB%5D%29%20OR%20%28lysosomal%20sialidase%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/608272)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_NEU1.html)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=7758)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4758)
What other names do people use for the NEU1 gene or gene products?
- acetylneuraminyl hydrolase
- G9 sialidase
- lysosomal sialidase
- N-acetyl-alpha-neuraminidase 1
- neuraminidase 1
- neuraminidase 1 precursor
- sialidase 1
- sialidase 1 (lysosomal sialidase)
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding NEU1?
You may find definitions for these and many other terms in the Genetics Home Reference
- Caciotti A, Di Rocco M, Filocamo M, Grossi S, Traverso F, d'Azzo A, Cavicchi C, Messeri A, Guerrini R, Zammarchi E, Donati MA, Morrone A. Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol. 2009 Nov;256(11):1911-5. doi: 10.1007/s00415-009-5213-4. Epub 2009 Jul 1. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19568825?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4758)
- OMIM: NEURAMINIDASE 1 (http://omim.org/entry/608272)
- Pattison S, Pankarican M, Rupar CA, Graham FL, Igdoura SA. Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. Hum Mutat. 2004 Jan;23(1):32-9. (http://www.ncbi.nlm.nih.gov/pubmed/14695530?dopt=Abstract)
- Seyrantepe V, Poupetova H, Froissart R, Zabot MT, Maire I, Pshezhetsky AV. Molecular pathology of NEU1 gene in sialidosis. Hum Mutat. 2003 Nov;22(5):343-52. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14517945?dopt=Abstract)
- Wu X, Steigelman KA, Bonten E, Hu H, He W, Ren T, Zuo J, d'Azzo A. Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice. Biochim Biophys Acta. 2010 Feb;1802(2):259-68. doi: 10.1016/j.bbadis.2009.10.008. Epub 2009 Oct 24. (http://www.ncbi.nlm.nih.gov/pubmed/19857571?dopt=Abstract)
- Yogalingam G, Bonten EJ, van de Vlekkert D, Hu H, Moshiach S, Connell SA, d'Azzo A. Neuraminidase 1 is a negative regulator of lysosomal exocytosis. Dev Cell. 2008 Jul;15(1):74-86. doi: 10.1016/j.devcel.2008.05.005. (http://www.ncbi.nlm.nih.gov/pubmed/18606142?dopt=Abstract)
- Zanoteli E, van de Vlekkert D, Bonten EJ, Hu H, Mann L, Gomero EM, Harris AJ, Ghersi G, d'Azzo A. Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue. Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):659-72. doi: 10.1016/j.bbadis.2010.04.002. Epub 2010 Apr 11. (http://www.ncbi.nlm.nih.gov/pubmed/20388541?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.