2024年12月25日 · PIGB (Phosphatidylinositol Glycan Anchor Biosynthesis Class B) is a Protein Coding gene. Diseases associated with PIGB include Developmental And Epileptic Encephalopathy 80 and Early Infantile Epileptic Encephalopathy. Among its related pathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins.

糖基磷脂酰肌醇 (GPI) 锚是一种在许多血细胞上发现的糖脂，用于将蛋白质锚定到细胞表面。 该基因被认为编码多萜醇-磷酸-甘露糖 (Dol-P-Man) 依赖性甘露糖基转移酶家族的成员。 [RefSeq 提供，2008 年 7 月] This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis.

GPI mannosyltransferase 3 is an enzyme that in humans is encoded by the PIGB gene. [5][6] This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis.

2019年8月1日 · We describe ten unrelated families with bi-allelic mutations in PIGB, a gene that encodes phosphatidylinositol glycan class B, which transfers the third mannose to the GPI. Ten different PIGB variants were found in these individuals.

2023年11月23日 · siRNA-mediated inhibition of phosphatidylinositol glycan Class B (PIGB) confers resistance to methylmercury in HEK293 cells. Glycoinositol phospholipid anchor-defective K562 mutants with biochemical lesions distinct from those in Thy-1- murine lymphoma mutants.

2019年8月1日 · We describe ten unrelated families with bi-allelic mutations in PIGB, a gene that encodes phosphatidylinositol glycan class B, which transfers the third mannose to the GPI. Ten different PIGB variants were found in these individuals. Flow cytometric analysis of blood cells and fibroblasts from the affected individuals showed decreased cell ...

Downregulation of the gene for phosphatidylinositol glycan class B (PIGB) by siRNA confers resistance to methylmercury in HEK293 cells. This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis.

2019年9月12日 · The PIGB cDNA encodes a predicted 554-amino acid transmembrane protein that is located in the endoplasmic reticulum. PIGB contains a small amino-terminal cytoplasmic domain and a large carboxy-terminal luminal domain. The human PIGB protein is 77% identical to murine Pigb, whose cDNA was also isolated by Takahashi et al. (1996). Northern blot ...

2021年10月1日 · Pathogenic variants in phosphatidylinositol glycan anchor biosynthesis class B (PIGB) gene have been first described as the cause of early infantile epileptic encephalopathy 80 (EIEE-80) in 2019. This disorder, an inherited glycosylphosphatidylinositol deficiency, is associated with a complex neurologic phenotype, including developmental delay ...

具有预测的α-1,2-甘露糖基转移酶活性。预测参与gpi锚生物合成过程和甘露糖基化。预测在gpi锚代谢过程的上游或内部发挥作用。位于内质网膜上。该基因的人类同源物与发育和癫痫性脑病80有关。与人类pigb(b类磷脂酰肌醇糖蛋白锚生物合成)正交。