References

These sources were used to develop the Genetics Home Reference gene summary on the GM2A gene.

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. PubMed citation
Entrez Gene
Mahuran DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):105-38. Review. PubMed citation
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. Review. PubMed citation
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. PubMed citation
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. PubMed citation

Reviewed: September 2008

Published: June 17, 2013