Gene Protein Transcript Blast result Transcript specific probe-cluster
Gene information for OBSL1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID23363
Official gene symbolOBSL1
Full nameobscurin-like 1
Gene summaryCytoskeletal 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]
LocationChromosome: 2   Locus: 
Gene position220436268 - 220415450  Map Viewer
OMIM ID610991