TPM2 (Tropomyosin 2 Beta, AMCD1, DA1, TMSB, Arthrogryposis Multiplex Congenital,Distal,Type 1)

TPM2 isbeta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. TPM2 gene in 14 probands with DA1. Only a single mutation was found. This was a C-to-G transversion in nucleotide 271 that resulted in an arginine-to-glycine substitution at aa residue 91 (arg91 to gly). It was found in the proband and affected family members of the kindred originally used to map DA1 to chromosome 9.

Applications:
Suitable for use in Western Blot and Immunohistochemistry. Other applications not tested.

Recommended Dilution:
Optimal dilutions to be determined by the researcher.

Storage and Stability:
May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for 12 months after receipt. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.