2021年1月26日 · HGNC Approved Gene Symbol: PIGQ. Many eukaryotic proteins are anchored to the membrane through the hydrocarbon chains of a covalently bound glycosylphosphatidylinositol (GPI) membrane anchor. GPI anchoring is important for regulation of cell growth and activation.

2024年12月25日 · PIGQ (Phosphatidylinositol Glycan Anchor Biosynthesis Class Q) is a Protein Coding gene. Diseases associated with PIGQ include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 and Epilepsy. Among its related pathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins.

Interacts with PIGC, PIGH, PIGP, PIGQ and DPM2 (PubMed:16162815). Interacts directly with PIGY; this interaction regulates glycosylphosphatidylinositol-N-acetylglucosaminyltransferase activity (PubMed:16162815).

2014年1月1日 · 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).

PIGQ (OMIM *605754) encodes phosphatidylinositol glycan biosynthesis class Q (PIGQ) and is required for proper functioning of an N-acetylglucosamine transferase complex in a similar manner to the more established PIGA, PIGC, and PIGH.

采用流式细胞术分别检测piga、pign、pigl、pigv变异的淋巴细胞表面白细胞分化抗原，结果均提示明显降低，而pigw变异不影响gpi－aps的数量，可能对其锚定蛋白功能产生影响。另外不同细胞表面gpi－aps的表达及所受影响均不同，因此，gpi－aps作为一项诊断手段仍需 ...

2023年5月1日 · 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.

Glycosylphosphatidylinositol (GPI) is a glycolipid that attaches dozens of different proteins to the cell surface. PIGA is 1 of several proteins required for the first step of GPI anchor biosynthesis (review by Brodsky, 2008). For further information on the PIG gene family and GPI biosynthesis, see GENE FAMILY.

2021年6月5日 · PIGQ encodes the phosphatidylinositol glycan class Q protein and is part of the GPI-N-acetylglucosaminyltransferase complex that initiates GPI biosynthesis from phosphatidylinositol (PI) and N-acetylglucosamine (GlcNAc) on the cytoplasmic side of the endoplasmic reticulum (ER).

2015年2月27日 · Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways.