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nebulin (NEB)
Function:
1) giant muscle protein
2) role in maintaining structural integrity of sarcomeres & the membrane system associated with myofibrils
3) binds & stabilizes F-actin
4) interacts with titin
Structure:
1) giant muscle protein
2) contains 178 nebulin repeats
3) 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
General
cytoskeletal protein
Properties
SIZE: entity length = 6669 aa
MW = 773.2 kD
COMPARTMENT: cytoplasm
MOTIF: Nebulin {76-6479} (178)
src homology 3 [SH3] domain
SITE: 6610-6669
Database Correlations
OMIM correlations
MORBIDMAP 161650
UniProt P20929
PFAM correlations
Entrez Gene 4703
References
- UniProt :accession P20929
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=NEB