产品名称
DOLK Rabbit Polyclonal Antibody
基因名称
DOLK KIAA1094 TMEM15 UNQ2422/PRO4980
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/22845
Human Swissprot No.
Q9UPQ8
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9UPQ8/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/227697
Mouse Swissprot No.
Q8R2Y3
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q8R2Y3
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
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
细胞定位
Endoplasmic reticulum membrane ; Multi-pass membrane protein .
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 which is required in the synthesis of N-linked and O-linked oligosaccharides and for that of GPI anchors.,miscellaneous:Complements the defects in growth, dolichol kinase activity and protein N-glycosylation at the restrictive temperature in yeast sec59 mutant cells.,similarity:Belongs to the polyprenol kinase family.,tissue specificity:Ubiquitous.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
