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- accession：NM_001081563
- 基因别名：DMPK
- 基因描述：Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.
- 载体：现货载体
- CDS区长度：1920
- 翻译后氨基酸长度：639
- TranscriptVariant：This variant (1) represents the longest transcript and encodes the longest isoform (1), also known as Form I.
- 基因简介：The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium channels, and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5,000 copies causes myotonic dystrophy type I, which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
