PI4KA Rabbit Polyclonal Antibody, 20ul Glassware Sets Mutations in several of the

Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome

This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport

results in chronic myeloproliferative disorder with eosinophilia

suggesting a role as a modifier for the cystinosis phenotype

This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination

PI4KA Rabbit Polyclonal Antibody, 20ul Glassware Sets Mutations in several of theThis gene encodes a phosphatidylinositol (PI) 4 kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4 5 bisphosphate. The mammalian PI 4 kinases have been classified into two types II and III based on their molecular mass and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine.