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protein

Human Nebulin (aa 5992-6123) Control Fragment Recombinant Protein

RP-102106

100 uL

US 259.00

Human Nebulin (aa 5992-6123) Control Fragment Recombinant Protein

RP-102106

100 uL

US 259.00

Recombinant

purified

Human

Blocking Assay: Assay-dependent, Control: Assay-dependent

Human

-20 C, Avoid Freeze/Thaw Cycles

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 kDa 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. Mutations in this gene are associated with recessive nemaline myopathy.

Liquid

Blocking Assay: Assay-dependent, Control: Assay-dependent

AI595938; DKFZp686C1456; FLJ11505; FLJ36536; FLJ39568; FLJ39584; NEB; NEB177D; nebulin; NEM2; nemaline myopathy type 2