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SMN1
Survival motor neuron protein also known as component of gems 1 or gemin-1 is a protein that in humans is encoded by the ''SMN1'' gene. Two transcript variants are produced by this gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/gene/6606 )〕 == Gene ==
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「SMN1」の詳細全文を読む
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