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Genetics Home Reference: your guide to understanding genetic conditions
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NAGA

Reviewed February 2010

What is the official name of the NAGA gene?

The official name of this gene is “N-acetylgalactosaminidase, alpha-.”

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

What is the normal function of the NAGA gene?

The NAGA gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase. This enzyme works in the lysosomes, which are compartments within cells that digest and recycle materials. Within lysosomes, the enzyme helps break down complexes called glycoproteins and glycolipids, which consist of sugar molecules attached to certain proteins and fats. Specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes.

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

Schindler disease - caused by mutations in the NAGA gene

Approximately seven NAGA gene mutations have been identified in people with Schindler disease. Most of these mutations are believed to change the 3-dimensional shape of the alpha-N-acetylgalactosaminidase enzyme, interfering with its ability to break down glycoproteins and glycolipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the various tissues and organs of the body leads to neurological problems and the other signs and symptoms of Schindler disease.

Where is the NAGA gene located?

Cytogenetic Location: 22q11

Molecular Location on chromosome 22: base pairs 42,058,333 to 42,070,841

The NAGA gene is located on the long (q) arm of chromosome 22 at position 11.

The NAGA gene is located on the long (q) arm of chromosome 22 at position 11.

More precisely, the NAGA gene is located from base pair 42,058,333 to base pair 42,070,841 on chromosome 22.

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 NAGA?

You and your healthcare professional may find the following resources about NAGA 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 NAGA gene or gene products?

  • Acetylgalactosaminidase, alpha-N- (alpha-galactosidase B)
  • alpha-N-acetylgalactosaminidase
  • alpha-N-acetylgalactosaminidase precursor
  • D22S674
  • GALB
  • NAGAB_HUMAN

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 NAGA?

cell ; enzyme ; gene ; glycolipids ; glycoproteins ; molecule ; neurological ; precursor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Clark NE, Garman SC. The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases. J Mol Biol. 2009 Oct 23;393(2):435-47. doi: 10.1016/j.jmb.2009.08.021. Epub 2009 Aug 14. (http://www.ncbi.nlm.nih.gov/pubmed/19683538?dopt=Abstract)
  • Desnick RJ, Wang AM. Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency. J Inherit Metab Dis. 1990;13(4):549-59. Review. (http://www.ncbi.nlm.nih.gov/pubmed/2122121?dopt=Abstract)
  • Kanekura T, Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Hirabayashi Y, Yoshii N, Fukushige T, Kanzaki T. Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes. J Dermatol Sci. 2005 Jan;37(1):15-20. Epub 2004 Dec 8. (http://www.ncbi.nlm.nih.gov/pubmed/15619430?dopt=Abstract)
  • Keulemans JL, Reuser AJ, Kroos MA, Willemsen R, Hermans MM, van den Ouweland AM, de Jong JG, Wevers RA, Renier WO, Schindler D, Coll MJ, Chabas A, Sakuraba H, Suzuki Y, van Diggelen OP. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. J Med Genet. 1996 Jun;33(6):458-64. (http://www.ncbi.nlm.nih.gov/pubmed/8782044?dopt=Abstract)
  • Michalski JC, Klein A. Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):69-84. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10571005?dopt=Abstract)
  • OMIM: N-ACETYL-ALPHA-D-GALACTOSAMINIDASE (http://omim.org/entry/104170)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4668)
  • Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Nakada H, Fukushige T, Kanzaki T. Structural and immunocytochemical studies on alpha-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease). J Hum Genet. 2004;49(1):1-8. Epub 2003 Dec 19. (http://www.ncbi.nlm.nih.gov/pubmed/14685826?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: February 2010
Published: December 16, 2014