Protein Domain : Chitobiosyldiphosphodolichol beta-mannosyltransferase ALG1-like IPR026051

Type  Family
Description  ALG1 (Asparagine-linked glycosylation protein 1) proteins participate in the formation of the lipid-linked precursor oligosaccharide for N-glycosylation. They are also involved in assembling the dolichol-pyrophosphate-GlcNAc(2)-Man5 intermediate on the cytoplasmic surface of the ER [ , ].Defects in human ALG1 are the cause of congenital disorder of glycosylation type 1K (CDG1K). CDGs are characterised by under-glycosylated serum proteins. 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. [ , , ].Glycosylation and growth of Alg1-deficient PRY56 yeast cells, showing a temperature-sensitive phenotype, could be restored by the human wild-type allele [ ].
Short Name  ALG1-like

0 Child Features

1 Gene Families

117 Genes

1 Ontology Annotations

0 Parent Features

14 Publications

USDA
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