Exinct
From Wikipedia, the free encyclopedia
Exinct stands for extended inhibitory context. It was first described by Singh and coworkers to define a negative sequence within the coding region of SMN2 gene [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=14766219&query_hl=2&itool=pubmed_docsum] [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=15663357&query_hl=2&itool=pubmed_docsum] [http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=15272122&query_hl=2&itool=pubmed_docsum]. Thanks to presence of Exinct, SMN2 gene is not able to produce the normal protein. In fact, Exinct causes aberrant splicing of exon 7, leading to the production of a short SMN transcript that makes a truncated non-functional SMN protein. Inability of SMN2 to make the full-length protein causes spinal muscular atropy (SMA), a debalitating disease of children and infant [http://en.wikipedia.org/wiki/Spinal_muscular_atrophy].
Next Page
This article is based on an article from Wikipedia, the free encyclopedia and is available under the terms of GNU Free Documentation License.
In the Wikipedia there is a list with all authors of this article available.