- Hutchinson Gilford progeria syndrome
- Hutchinson Gilford syndrome
Your QuestionWhere is the gene responsible for Hutchinson-Gilford progeria syndrome located?
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The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.
Click here to view an image depicting the location of the LMNA gene.
- Hutchinson-Gilford progeria syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome. Accessed 10/28/2015.
- Learning About Progeria. National Human Genome Research Institute (NHGRI). December 27, 2013; http://www.genome.gov/11007255. Accessed 10/28/2015.
- Progeria 101 / FAQ. Progeria Research Foundation. 2015; http://www.progeriaresearch.org/progeria_101.html. Accessed 10/28/2015.
- LMNA. Genetics Home Reference (GHR). August 2013; http://ghr.nlm.nih.gov/gene/LMNA. Accessed 10/28/2015.