OBSL1, Official Symbol OBSL1provided by HGNC Official Full Name obscurin like cytoskeletal adaptor 1provided by HGNC Primary source HGNC:HGNC:29092 See related Ensembl:ENSG00000124006 MIM:610991; AllianceGenome:HGNC:29092 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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, Mar 2010] Expression Broad expression in ovary (RPKM 37.4), testis (RPKM 15.3) and 19 other tissues See more Orthologs mouse all