基因名称(Gene Name)
DOLK KIAA1094 TMEM15 UNQ2422/PRO4980
免疫原
Synthesized peptide derived from human DOLK AA range: 420-470
特异性
This antibody detects endogenous levels of DOLK at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
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],
功能
catalytic activity:CTP + dolichol = CDP + dolichyl phosphate.,disease:Defects in DOLK are the cause of congenital disorder of glycosylation type 1M (CDG1M) [MIM:610768]; 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.,function:Involved in the synthesis of the sugar donor Dol-P-Man
