{"symbol":"OBSL1","synonyms":[],"name":"obscurin-like 1","description":"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]","ncbiEntrezGeneId":23363,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/23363","proteins":[{"symbol":"OBSL1_HUMAN","href":"/api/1.0/protein/OBSL1_HUMAN"}],"hgncRootFamilies":[{"name":"Immunoglobulin superfamily domain containing","href":"/api/1.0/gene_family/Immunoglobulin+superfamily+domain+containing"}]}