NCBI and Uniprot Product Information
NCBI Description
The 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.[provided by RefSeq, Apr 2010]
Uniprot Description
DOLK: Involved in the synthesis of the sugar donor Dol-P-Man which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors. Defects in DOLK are the cause of congenital disorder of glycosylation type 1M (CDG1M); also known as dolichol kinase deficiency. CDGs are a family of severe inherited diseases caused by a defect in glycoprotein biosynthesis. They are characterized by under-glycosylated serum glycoproteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1M is a very severe disorder with death occurring in early infancy. Belongs to the polyprenol kinase family.
Protein type: Membrane protein, multi-pass; Membrane protein, integral; Endoplasmic reticulum; Kinase, other; EC 2.7.1.108
Chromosomal Location of Human Ortholog: 9q34.11
Cellular Component: endoplasmic reticulum membrane; integral to endoplasmic reticulum membrane
Molecular Function: dolichol kinase activity
Biological Process: cellular protein metabolic process; dolichol-linked oligosaccharide biosynthetic process; dolichyl diphosphate biosynthetic process; dolichyl monophosphate biosynthetic process; protein amino acid N-linked glycosylation via asparagine; post-translational protein modification; phosphorylation
Disease: Congenital Disorder Of Glycosylation, Type Im
Research Articles on DOLK
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Product Notes
The Human DOLK dolk (Catalog #AAA2602886) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA2602886 ELISA Kit recognizes Human DOLK. It is sometimes possible for the material contained within the vial of "dolichol kinase, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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