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

and many specific SCF substrates have been identified including regulators of cell cycle progression and development

May be involved in Rab6-mediated GTPase signaling

A pseudogene of AKAP8 is located on the short arm of chromosome 9

The tumor protein p53 responds to diverse cellular stresses to regulate expression of target genes

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