anti-Nebulin Antikörper

Protein Überblick

This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy.

Genbezeichner und Symbole assoziert mit anti-Nebulin (NEB) Antikörper

• nebulin (neb) Antikörper
• nebulin (NEB) Antikörper
• nebulin (Neb) Antikörper
• nebulin (LOC100516703) Antikörper

• AI595938 Antikörper
• im:6904860 Antikörper
• im:7001777 Antikörper
• im:7144538 Antikörper
• im:7150492 Antikörper
• Alle Synonyme
• NEB Antikörper
• NEB177D Antikörper
• NEM2 Antikörper
• si:ch211-168m7.5 Antikörper
• wu:fc33b04 Antikörper

Bezeichner auf Proteinebene für anti-Nebulin (NEB) Antikörper

nebulin , nemaline myopathy type 2