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Normal Function
The GM2A gene provides instructions for making a protein called the ganglioside GM2 activator. This protein is necessary for the normal function of an enzyme called beta-hexosaminidase A. Beta-hexosaminidase A and the ganglioside GM2 activator protein work together in lysosomes, which are compartments in the cell that digest and recycle different types of molecules. Within lysosomes, the activator protein binds to a fatty substance called GM2 ganglioside and presents it to beta-hexosaminidase A to be broken down.
Health Conditions Related to Genetic Changes
GM2 activator deficiency
A few variants (also called mutations) in the GM2A gene have been identified in people with GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant). This is a rare inherited disorder that results in progressive brain injury. Some of the GM2A gene variants change single protein building blocks (amino acids) in the ganglioside GM2 activator. Other variants delete a small amount of DNA from the GM2A gene. Some of these genetic changes result in an unstable activator protein that quickly breaks down, while others prevent the gene from making any functional protein. Without the ganglioside GM2 activator, beta-hexosaminidase A is unable to break down GM2 ganglioside. As a result, this substance builds up to toxic levels. Progressive damage caused by the buildup of GM2 ganglioside leads to the typical signs and symptoms of GM2 activator deficiency.
More About This Health ConditionOther Names for This Gene
- ganglioside GM2 activator
- GM2 activator
- GM2 ganglioside activator
- GM2-AP
- GM2AP
- SAP-3
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Chen B, Rigat B, Curry C, Mahuran DJ. Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2. Am J Hum Genet. 1999 Jul;65(1):77-87. doi: 10.1086/302463. Citation on PubMed or Free article on PubMed Central
- Mahuran DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):105-38. doi: 10.1016/s0925-4439(99)00074-5. Citation on PubMed
- Mahuran DJ. The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein. Biochim Biophys Acta. 1998 Jul 31;1393(1):1-18. doi: 10.1016/s0005-2760(98)00057-5. Citation on PubMed
- Schepers U, Glombitza G, Lemm T, Hoffmann A, Chabas A, Ozand P, Sandhoff K. Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. Am J Hum Genet. 1996 Nov;59(5):1048-56. Citation on PubMed or Free article on PubMed Central
- Wendeler M, Werth N, Maier T, Schwarzmann G, Kolter T, Schoeniger M, Hoffmann D, Lemm T, Saenger W, Sandhoff K. The enzyme-binding region of human GM2-activator protein. FEBS J. 2006 Mar;273(5):982-91. doi: 10.1111/j.1742-4658.2006.05126.x. Citation on PubMed
- Xiao C, Toro C, Tifft C. GM2 Activator Deficiency. 2022 Aug 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK583219/ Citation on PubMed
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