DOLK Rabbit Polyclonal Antibody, 50ul Liquid Storage Consumables Defects in this gene are

Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2

PDK1 itself can autophosphorylate Ser-241

mouse studies link its function to adenylyl cyclase inhibition

and belongs to the protein phosphatase 2C (PP2C) superfamily

The protein contains ankyrin repeat

DOLK Rabbit Polyclonal Antibody, 50ul Liquid Storage Consumables Defects in this gene areThe protein encoded by this gene catalyzes the CTP mediated phosphorylation of dolichol and is involved in the synthesis of Dol P Man which is an essential glycosyl carrier lipid for C and O mannosylation N and O linked glycosylation of proteins and for the biosynthesis of glycosyl phosphatidylinositol anchors in endoplasmic reticulum. Mutations in this gene are associated with dolichol kinase deficiency.