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Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIG-A, or phosphatidylinositol glycan, class A) is the catalytic subunit of the phosphatidylinositol N-acetylglucosaminyltransferase enzyme, which in humans is encoded by the PIGA gene.

该基因编码合成 N-乙酰葡糖胺磷脂酰肌醇 (GlcNAc-PI) 所需的蛋白质，GlcNAc-PI 是 GPI 锚生物合成途径中的第一个中间体。 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。 阵发性睡眠性血红蛋白尿症是一种获得性血液病，已被证明是由该基因突变引起的。 交替剪接变体已被表征。 一个相关的假基因位于 12 号染色体上。 [RefSeq 提供，2010 年 6 月]

The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A (shortened to PIG-A). The PIG-A protein takes part in a series of steps that produce a molecule called glycophosphatidylinositol (GPI) anchor.

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2024年12月25日 · PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A) is a Protein Coding gene. Diseases associated with PIGA include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 and Neurodevelopmental Disorder With Epilepsy And Hemochromatosis .

糖基化磷脂酰肌醇 (glycosylphosphatidylinositol，GPI)，在内质网合成，其作用相当于一个锚，与人体中多种蛋白 (包括多种酶、受体、补体调节蛋白、黏附分子等)结合，即形成糖基化磷脂酰肌醇锚定蛋白 (GPI－anchored proteins，GPI－APs)。 GPI－APs经过内质网、高尔基体的重构与运输，最终定位于细胞膜上发挥作用，其关系到人体的胚胎形成、神经发育、免疫作用等多个方面 [1]。

PIGA-CDG, also known as PIGA deficiency and Multiple Congenital Anomalies-Hypotonia-Seizures syndrome type 2 (MCAHS2), is a rare inherited condition that affects many parts of the body. It is one of the more common congenital disorders of glycosylation (CDG) with more than 100 cases reported to date in the medical literature.

2024年4月3日 · GPI3; PNH1; PIG-A; MCAHS2; NEDEPH Summary This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface.