COMP Rabbit Polyclonal Antibody, 50ul Dialysis Mutations in this gene are

Mutations in this gene are associated with Keppen-Lubinsky Syndrome| a rare condition characterized by severe developmental delay| facial dysmorphism| and intellectual disability

Alternative splice variants have been identified| both encoding the same protein

domains III and V contain several EGF-like repeats

L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition

COMP Rabbit Polyclonal Antibody, 50ul Dialysis Mutations in this gene areThe protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits each with EGF like and calcium binding (thrombospondin like) domains. Oligomerization results from formation of a five stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations