The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
Journal Article (Journal Article)
Amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS) are neurodegenerative conditions that affect large motor neurons of the central nervous system. We have identified a familial juvenile PLS (JPLS) locus overlapping the previously identified ALS2 locus on chromosome 2q33. We report two deletion mutations in a new gene that are found both in individuals with ALS2 and those with JPLS, indicating that these conditions have a common genetic origin. The predicted sequence of the protein (alsin) may indicate a mechanism for motor-neuron degeneration, as it may include several cell-signaling motifs with known functions, including three associated with guanine-nucleotide exchange factors for GTPases (GEFs).
- Yang, Y; Hentati, A; Deng, HX; Dabbagh, O; Sasaki, T; Hirano, M; Hung, WY; Ouahchi, K; Yan, J; Azim, AC; Cole, N; Gascon, G; Yagmour, A; Ben-Hamida, M; Pericak-Vance, M; Hentati, F; Siddique, T
- October 1, 2001
Volume / Issue
- 29 / 2
Start / End Page
- 160 - 165
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)
- United States