Disease mechanisms associated with mutations of the GNE gene

descriptionPublicationkeyboard_double_arrow_right Article 01 Dec 2005 English Publisher:Elsevier BVJournal:Drug Discovery Today: Disease Mechanisms, volume 2, pages 519-527 (issn: 1740-6765,

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Authors: Marjan Huizing;

doi: 10.1016/j.ddmec.2005.11.003

Disease mechanisms associated with mutations of the GNE gene

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Abstract

The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase. GNE mutations underlie two distinct disorders, dominant inherited sialuria characterized by dramatically increased sialic acid levels and recessive hereditary inclusion body myopathy (HIBM), characterized by decreased sialic acid production. This review describes the central role of GNE in sialic acid metabolism and the two intriguing disorders associated with GNE defects, sialuria and HIBM.

Related Organizations

National Institute of Health
Pakistan
National Institutes of Health
United States
National Human Genome Research Institute
United States

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