- accession:NM_001256896
- 基因别名:DOK7
- 基因描述:Homo sapiens docking protein 7 (DOK7), transcript variant 3, mRNA.
- 载体:现货载体
- CDS区长度:585
- 翻译后氨基酸长度:194
- TranscriptVariant:This variant (3) uses an alternate internal promoter, differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) is significantly shorter at the N-terminus, compared to isoform 1.
- 基因简介:The protein encoded by this gene is essential for neuromuscular synaptogenesis. The protein functions in aneural activation of muscle-specific receptor kinase, which is required for postsynaptic differentiation, and in the subsequent clustering of the acetylcholine receptor in myotubes. This protein can also induce autophosphorylation of muscle-specific receptor kinase. Mutations in this gene are a cause of familial limb-girdle myasthenia autosomal recessive, which is also known as congenital myasthenic syndrome type 1B. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
- 规格:10ul 质粒
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