XB-FEAT-5945764

obsl1

This is the community wiki page for the gene obsl1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

08.23.2019

Human name has changed for Entrez Gene: 23363. From obscurin like 1 to obscurin like cytoskeletal adaptor 1

Summary from NCBI for human OBSL1

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]