2024年12月24日 · ALG1 (ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG1 include Congenital Disorder Of Glycosylation, Type Ik and Alg1-Congenital Disorder Of Glycosylation .

The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3). A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly.

The ALG1 gene provides instructions for making an enzyme that is involved in a process called glycosylation. During this process, complex chains of sugar molecules (oligosaccharides) are attached to proteins and fats (lipids).

ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems.

ALG1-CDG is classified as a disorder of N-linked protein glycosylation. ALG1-CDG is caused when an individual has mutations in both copies of the ALG1 gene, which provides instructions for making an enzyme that attaches the simple sugar mannose to growing sugar chains during N …

Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1[5] whose structure and function has been conserved from lower to higher organisms. [6][7] The biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise manner.

ALG1 encodes a β1,4 mannosyltransferase that catalyzes the addition of the first of nine mannose moieties to form a dolichol-lipid linked oligosaccharide intermediate (DLO) required for proper N-linked glycosylation. ALG1 mutations cause a …

By EST database searching with the S. cerevisiae MT I gene (ALG1) and subsequent screening of a human fetal brain cDNA library, Takahashi et al. (2000) isolated a cDNA corresponding to the human homolog, which they called HMAT1.

From MedlinePlus Genetics ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and symptoms that typically develop during infancy and can affect several body systems.

Clinical resource with information about ALG1-congenital disorder of glycosylation and its clinical features, ALG1, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, …