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.

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.

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).

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.

Ubiquitous expression in testis (RPKM 6.0), colon (RPKM 5.8) and 25 other tissues. 由该基因编码的酶催化脂质连接的寡糖生物合成中的第一个甘露糖基化步骤。 该基因在 Ik 型糖基化先天性疾病中发生突变。 [RefSeq 提供，2008 年 12 月] The Enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides.

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 …

该研究应用了 新生蛋白质组学 技术和 糖蛋白质组学 方法为ALG1参与肿瘤恶性表型调控提供了直接证据。 该结果首次表明，敲减ALG1可以影响N-钙粘蛋白位点特异性的糖基化，抑制细胞粘附，促进细胞迁移（图4）。

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.

In a patient with congenital disorder of glycosylation type Ik (CDG1K; 608540), Dupre et al. (2010) identified compound heterozygosity for 2 mutations in the ALG1 gene: a 1263G-A transition in exon 12, resulting in a cys396-to-ter (C396X) substitution, and an 826C-T transition in exon 7, resulting in an arg276-to-trp (R276W; 605907.0007 ...

Description: Homo sapiens ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase (ALG1), transcript variant 1, mRNA. (from RefSeq NM_019109) RefSeq Summary (NM_019109): The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides.