Desmoplakin(Phospho-Ser165/166) Rabbit Polyclonal Antibody, 20ul Endonucleases & Exonucleases Mutations in this gene are

Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis

The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region

The amiloride-sensitive Na(+) channel encoded by this gene is primarily expressed in the small intestine

LRP10 encodes a low density lipoprotein receptor family protein

large and small

Desmoplakin(Phospho-Ser165/166) Rabbit Polyclonal Antibody, 20ul Endonucleases & Exonucleases Mutations in this gene areThis 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.