a vital component of a muscle sarcolemma membrane-spanning complex that connects cytoskeleton to basal lamina; plays a role in retinal neurotransmission; mutations cause Duchenne muscular dystrophy [RGD, Feb 2006]
Accession: | NM_001005244 |
---|---|
基因名称: | Dmd |
基因别名: | RATDMD; DNADMD1 |
基因描述: | Rattus norvegicus dystrophin (Dmd), transcript variant Dp71ab, mRNA. |
种属: | Rat |
CDS区长度: | 1869 (查看编码区序列) |
翻译后氨基酸长度: | 622 (查看氨基酸序列) |
Transcript Variant: | This variant (Dp71ab) lacks an exon in the 3' coding region, resulting in a frameshift, as compared to variant Dp71a. The encoded isoform Dp71ab has a longer and distinct C-terminus, as compared to isoform Dp71a. |
大鼠 Dmd (NM_012698) cDNA克隆 | transcript variant Dp71a |
大鼠 Dmd (NM_001005244) cDNA克隆 | transcript variant Dp71ab |
大鼠 Dmd (NM_001005246) cDNA克隆 | transcript variant Dp71c |
a vital component of a muscle sarcolemma membrane-spanning complex that connects cytoskeleton to basal lamina; plays a role in retinal neurotransmission; mutations cause Duchenne muscular dystrophy [RGD, Feb 2006]