Pub. Date : 2013 Feb
PMID : 22996397
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
1 | SCA2, one of the most common ataxias worldwide, is caused by the expansion of a CAG triplet repeat located in the N-terminal coding region of the ATXN2 gene, which results in the incorporation of a segment of polyglutamines in the mutant protein, being longer expansions associated with earlier onset and more sever disease in subsequent generations. | polyglutamine | ataxin 2 | Homo sapiens |
2 | SCA2, one of the most common ataxias worldwide, is caused by the expansion of a CAG triplet repeat located in the N-terminal coding region of the ATXN2 gene, which results in the incorporation of a segment of polyglutamines in the mutant protein, being longer expansions associated with earlier onset and more sever disease in subsequent generations. | polyglutamine | ataxin 2 | Homo sapiens |