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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for OBSL1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID23363
Official gene symbolOBSL1
Full nameobscurin-like 1
Aliases,KIAA0657,MGC71026,
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: 2q35
Gene position220436268 - 220415450  Map Viewer
Gene orientationminus
Gene size20819 bp
Gene sequence
OMIM ID610991