人 MBNL2 (NM_144778) cDNA克隆

Accession: NM_144778
基因名称: MBNL2
基因别名: MBLL; MBLL39; PRO2032; RP11-128N14.1
基因描述: Homo sapiens muscleblind-like splicing regulator 2 (MBNL2), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1104 (查看编码区序列)
翻译后氨基酸长度: 367 (查看氨基酸序列)
Transcript Variant: This variant (1) encodes the longest isoform (1).
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G123543 人 MBNL2 (NM_144778) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]