OBSL1

Name

obscurin like cytoskeletal adaptor 1

Type

protein-coding

Position

219,550,727–219,571,859 (−)

Ensembl

ENSG00000124006

RefSeq RNA

NM_001173408.2, NM_001173431.2, NM_015311.3, XM_011510857.3, XM_011510863.4

RefSeq protein

NP_001166879.1, NP_001166902.1, NP_056126.1, XP_011509159.1, XP_011509165.1

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].

via MyGene.info

Wikidata facts

Image

Protein OBSL1 PDB 2cpc.png

via Wikidata · CC0