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Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
- Source :
- American Journal of Human Genetics. Feb 12, 2010, Vol. 86 Issue 2, p185, 11 p.
- Publication Year :
- 2010
-
Abstract
- A study reports that mutations in the small GTPase gene RAB39B are responsible for X-linked Human Mental Retardation (HMR) associated with autism, epilepsy, and macrocephaly. Analyses demonstrate that RAB39B, a novel GTPase of the RAB family, is a neuronal-specific protein required for synapse formation and maintenance, and its downregulation due to mutations impairs the development of neurons and human intellectual abilities.
Details
- Language :
- English
- ISSN :
- 00029297
- Volume :
- 86
- Issue :
- 2
- Database :
- Gale General OneFile
- Journal :
- American Journal of Human Genetics
- Publication Type :
- Academic Journal
- Accession number :
- edsgcl.223631696