Desmoplakin(Phospho-Ser165/166) Rabbit Polyclonal Antibody, 20ul Endonucleases & Exonucleases This gene is located in

This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases

Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis

associated with TERF1

large and small

tissue specificity:Expressed in lung and macrophages

Desmoplakin(Phospho-Ser165/166) Rabbit Polyclonal Antibody, 20ul Endonucleases & Exonucleases This gene is located inThis gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas including skin fragility woolly hair syndrome. Alternative splicing results in multiple transcript variants.