nebulin (NEB)

Function

• giant muscle protein
• role in maintaining structural integrity of sarcomeres & the membrane system associated with myofibrils
• binds & stabilizes F-actin
• interacts with titin

Structure

• giant muscle protein
• contains 178 nebulin repeats
• contains 1 SH3 domain

Compartment

located in thin filament of striated muscle

Expression

muscle specific

Pathology

• defects in NEB are the cause of nemaline myopathy type 2

More general terms

• cytoskeletal protein

Database

• UniProt: http://www.uniprot.org/uniprot/P20929.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4703
• OMIM: https://mirror.omim.org/entry/161650
• OMIM: https://mirror.omim.org/entry/256030