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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| OBSL1-20-RE | 20 (40 μL) | 200 μL |  |
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| OBSL1-20-OR | 20 (40 μL) | 200 μL |  |
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| OBSL1-20-GO | 20 (40 μL) | 200 μL |  |
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| OBSL1-20-GR | 20 (40 μL) | 200 μL |  |
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| OBSL1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : OBSL1
Gene Name : Obscurin like 1
Chromosome : CHR 2: 219,571,572-219,549,407
Locus : 2q35
Alt. Genes : FAM13A
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