Canavan disease

Causes

What gene causes Canavan disease?

Unexpected changes in the ASPA gene have been shown to cause Canavan disease. This is the only gene in which unexpected changes are known to cause the disease. Genes are segments of DNA found on chromosomes. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent, deficient, or faulty and ineffective. The ASPA gene gives instructions to the body to make an enzyme called aspartoacylase.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/canavan-disease/causes/8496 • DATE UPDATED: 2016-05-08

References

Matalon, R, Michals-Matalon K. GeneReviews website. Updated August 11, 2011. Retrieved April 29, 2016, from http://www.ncbi.nlm.nih.gov/books/NBK1234/

Canavan Disease. OMIM website. Updated October 25, 2012. Retrieved April 29, 2016 from http://www.omim.org/entry/271900

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