Anti-Desmoplakin-1, clone 5F191

Desmoplakin (DP) is a cytoplasmic plaque protein that is located in desmosomes, which are abundant in tissues subjected to mechanical stress, like muscle and epidermis. The role of DP is to link the transmembrane cadherins via plakoglobin to the cytoplasmic intermediate filament network (Kowalczyk et al. 1997, Smith and Fuchs 1998). DP comprises an N-terminal, desmosome-associated plakin domain binding to plakoglobin and plakophilin (Smith and Fuchs 1998), a central coiled-coil rod domain responsible for dimerization, and a C-terminal domain consisting of three homologous plakin repeat subdomains, named A, B, and C, that interact with the intermediate filaments (Choi et al. 2002). Mutations in desmoplakin can cause cardiocutaneous syndromes. Haplotype insufficiency of DP may cause striate palmoplantar keratoderma (PPK [MIM 125647]) (Armstrong et al. 1999, Whittock et al. 1999), whereas dominant missense mutations in the N-terminal domain may cause arrhythmogenic right ventricular dysplasia (ARVD [MIM 607450]) (Rampazzo et al. 2002). A nonsense mutation in the N-terminal domain combined with a recessive missense mutation causes skin fragility/woolly hair syndrome with striate PPK [MIM 607655] (Whittock et al. 2002), whereas a homozygous recessive missense mutation in the B-subdomain causes ARVD, woolly hair, and acral skin blistering (Naxos-like disease) (Alcalai et al. 2003), and a homozygous truncatious mutation in the C-terminus causes left ventricular cardiomyopathy, woolly hair, and PPK (Carvajal syndrome [MIM 605676]) (Norgett et al. 2000). DP must be indispensable, because DP-/- mice are early abortive (Gallicano et al. 1998)., Applications: , Suitable for use in Western Blot and Immunohistochemistry. Other applications have not been tested. , Recommended Dilution:, Immunohistochemistry (Frozen, paraffin): 1:10 diluted with PBS, pH 7.4, Incubate for 1h at RT. Microwave treatment required. , Optimal dilution determined by the researcher. , Storage and Stability:, Lyophilized powder may be stored at -20°C. Stable for 12 months at -20°C. Reconstitute with sterile ddH2O. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Reconstituted product is stable for 12 months at -20°C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.