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- 商品货号：G144433
- accession：NM_133337
- 基因别名：MYOF
- 基因描述：Homo sapiens myoferlin (MYOF), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：6147
- 翻译后氨基酸长度：2048
- TranscriptVariant：This variant (2) lacks a 39 nt coding region as compared to transcript variant 1. As a result, variant 2 encodes an isoform (b) that lacks an internal 13 aa segment as compared to isoform a, which is encoded by variant 1.
- 基因简介：Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 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
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