- accession:NM_001135940
- 基因别名:MYOT
- 基因描述:Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:945
- 翻译后氨基酸长度:314
- TranscriptVariant:This variant (2) lacks an alternate in-frame exon in the 5' coding region and uses a downstream start codon, compared to variant 1. Isoform b has a shorter N-terminus, compared to isoform a.
- 基因简介:This gene encodes a cystoskeletal protein which plays a significant role in the stability of thin filaments during muscle contraction. This protein binds F-actin, crosslinks actin filaments, and prevents latrunculin A-induced filament disassembly. Mutations in this gene have been associated with limb-girdle muscular dystrophy and myofibrillar myopathies. 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, Oct 2008]
- 规格:10ul 质粒
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