Entrez gene ID | | 23363 |
Official gene symbol | | OBSL1 |
Full name | | obscurin-like 1 |
Aliases | | ,KIAA0657,MGC71026, |
Gene summary | | 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] |
Location | | Chromosome: 2 Locus: 2q35 |
Gene position | | 220436268 - 220415450 Map Viewer |
Gene orientation | | minus |
Gene size | | 20819 bp |
Gene sequence |
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OMIM ID | | 610991 |
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