2024年12月24日 · ALG12 (ALG12 Alpha-1,6-Mannosyltransferase) is a Protein Coding gene. Diseases associated with ALG12 include Congenital Disorder Of Glycosylation, Type Ig and Srd5a3-Congenital Disorder Of Glycosylation .

Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase is an enzyme that in humans is encoded by the ALG12 gene. [5] [6] This gene encodes a member of the glycosyltransferase 22 family.

The ALG12 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).

alg12 α-1,6-甘露糖基转移酶： 该基因编码糖基转移酶 22 家族的一个成员。 编码的蛋白质催化将 alpha-1,6 连接中的第八个甘露糖残基添加到蛋白质糖基化所需的多萜醇-PP-寡糖前体 (多萜醇-PP-Man (7) GlcNAc (2) ) 上。

发现 alg12 基因新的内含子变异，是致病性 4 级 plof 变异。 此研究对 CDG 发病机制理解、诊断和治疗意义重大，值得科研读者一读。 首次揭秘 ALG12 基因内含子变异，为先天性糖基化障碍诊疗带来新曙光 - 生物通

ALG12-CDG is a severe multisystem disease associated with low to deficient serum immunoglobulins and recurrent infections. We thoroughly investigated the glycophenotype in a patient with novel ALG12 variants and immunodeficiency.

2024年3月5日 · A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.

2025年2月8日 · A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.

2005年7月1日 · ALG12 encodes an alpha-1,6-mannosyltransferase involved in the first step of N-linked glycosylation of proteins in the endoplasmic reticulum (ER) - the assembly of the lipid-linked oligosaccharide (LLO), which then serves as a donor in the second step - the transfer of the oligosaccharide to asparagine residues of nascent polypeptides.

2001年6月1日 · Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen.