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PIGA gene - MedlinePlus
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.
PIGA Gene - GeneCards | PIGA Protein | PIGA Antibody
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.
PIGA - Wikipedia
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.
PIGA-Congenital Disorder of Glycosylation (PIGA-CDG)
PIGA-CDG is an extremely rare genetic disorder impacting children from birth. The symptoms of PIGA-CDG are wide-ranging in both scope and severity. Not all children with PIGA-CDG may exhibit all symptoms and some children will exhibit additional symptoms.
PIGA phosphatidylinositol glycan anchor biosynthesis class A
the PIGA mutation in this family likely causes a reduction in GPI anchor protein cell surface expression in various cell types, resulting in the observed pleiotropic phenotype involving central nervous system, skin, and iron metabolism.
磷脂酰肌醇聚糖锚生物合成 A 类（PIGA）基因 | MCE
磷脂酰肌醇聚糖锚生物合成 A 类： 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 ...
The genotypic and phenotypic spectrum of PIGA deficiency
2015年2月27日 · Here, we report on a new missense PIGA germline mutation [g.15342986C>T (p.S330N)] identified via WES followed by Sanger sequencing, in a Chinese male infant presenting with developmental arrest, infantile spasms, a pattern of lesion distribution on brain MRI resembling that typical of maple syrup urine disease, contractures, dysmorphism ...
Lessons learned from 40 novel PIGA patients and a review of the ...
Objective: To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations. Methods: Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition ...
PIGA人源基因|PIGA基因突变_致病性_靶点-RDDC官网
这个基因编码一种蛋白质，该蛋白质是gpi锚定的生物合成途径中的第一个中间产物，gpi锚定是一种糖脂，存在于许多血细胞上，用于将蛋白质锚定在细胞表面。阵发性睡眠性血红蛋白尿症是一种获得性血液系统疾病，已被证明是由这个基因的突变引起的。已表征了交替剪接变体。