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出典:『Wikipedia』 (2011/05/07 12:44 UTC 版)

英語による解説

引用

In genetics, exinct (short for "extended inhibitory context") is a mutation. It was first described by Singh and coworkers to define a negative sequence within the coding region of SMN2 gene. 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 atrophy, a debilitating disease of children and infants.