人 OBSL1 (NM_001173431) cDNA克隆

Accession: NM_001173431
基因名称: OBSL1
基因描述: Homo sapiens obscurin-like 1 (OBSL1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 4632 (查看编码区序列)
翻译后氨基酸长度: 1543 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks multiple 3' exons but has an alternate 3' sequnce, as compared to variant 1. The resulting isoform (2, also known as isoform C) is shorter and has a different C-terminus, as compared to isoform 1.
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G116983 人 OBSL1 (NM_001173431) cDNA克隆 pDONR223 2ug质粒 点击询价

Cytoskeletal adaptor proteins function in linking the internal cytoskeleton of cells to the cell membrane. This gene encodes a cytoskeletal adaptor protein, which is a member of the Unc-89/obscurin family. The protein contains multiple N- and C-terminal immunoglobulin (Ig)-like domains and a central fibronectin type 3 domain. Mutations in this gene cause 3M syndrome type 2. Alternatively spliced transcript variants encoding different isoforms have been found in this gene. [provided by RefSeq, Mar 2010]