人 MUSK (NM_001166281) cDNA克隆

Accession: NM_001166281
基因名称: MUSK
基因描述: Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 3, mRNA.
种属: Human
CDS区长度: 2322 (查看编码区序列)
翻译后氨基酸长度: 773 (查看氨基酸序列)
Transcript Variant: This variant (3) lacks an alternate in-frame exon in the middle portion of the coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
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G122831 人 MUSK (NM_001166281) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]