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Dec 25, 2024 · PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P) is a Protein Coding gene. Diseases associated with PIGP include Developmental And Epileptic Encephalopathy 55 and Early Infantile Epileptic Encephalopathy. Among its related pathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins.

May 1, 2023 · Our results extend the clinical phenotype associated to PIGP gene and propose to include it as a novel cause of Multiple Congenital Anomalies-Hypotonia-Seizures syndrome. Keywords: PIGP gene; congenital anomalies; glycosylphosphatidylinositol-anchored proteins; novel phenotype; whole-exome sequencing.

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]。

该基因编码一种参与糖基磷脂酰肌醇 (GPI) -锚生物合成第一步的酶。 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。 编码的蛋白质是 GPI-N-乙酰葡糖胺基转移酶复合物的一个组分，该复合物催化 N-乙酰葡糖胺 (GlcNAc) 从 UDP-GlcNAc 转移到磷脂酰肌醇 (PI) 。 该基因位于 21 号染色体上唐氏综合症的关键区域，是唐氏综合症发病的候选基因。 该基因具有多个假基因，是磷脂酰肌醇聚糖锚定生物合成基因家族的成员。 已经描述了编码不同亚型的选 …

Mar 5, 2024 · Clinical resource with information about PIGP, Developmental and epileptic encephalopathy, 55, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Jan 1, 2014 · Glycosylphosphatidylinositols (GPIs) function as an anchor linking cell surface proteins to the plasma membrane in a wide range of eukaryotic organisms from yeast to mammals (Ferguson et al. 2009; Orlean and Menon 2007).

Mar 4, 2020 · The PIGP gene encodes a subunit of the enzyme that catalyzes the first step of glycophosphatidylinositol (GPI) anchor biosynthesis (Johnstone et al., 2017). For information on the PIG gene family and the roles of PIG proteins in GPI biosynthesis, see PIGA .

View mouse Pigp Chr16:94159622-94171874 with: sequences, polymorphisms, proteins, references, function, expression

预测在gpi锚生物合成过程的上游或内部发挥作用。预测位于内质网中。预测是糖磷脂酸肌醇-n-乙酰葡萄糖胺转移酶(gpi-gnt)复合物的一部分。该基因的人类同源物与发育和癫痫性脑病55有关。与人类pigp(磷脂酰肌醇聚糖锚生物合成类p)同源。