XB-FEAT-5945764: Difference between revisions
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= | =obsl1= | ||
This is the community wiki page for the gene '' | 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] | |||
Latest revision as of 09:23, 28 August 2019
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]