PIGA-CDG can also be identified by testing for the presence of GPI-anchored proteins on the surface of granulocytes (a subset of white blood cells). Symptoms of PIGA-CDG begin at infancy and are primarily characterized by developmental delay, epilepsy, and low muscle tone. Learn about this gene and related health conditions. The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A. The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A. Multiple Congenital Anomalies-Hypotonia-Seizures syndrome type 2 (MCAHS2), also known as PIGA-CDG or PIGA deficiency, has been shown to result from germline mutations in the PIGA gene. The PIGA gene falls under a group of rare inherited metabolic diseases called Congenital Disorders of Glycosylation (CDG) because the gene is involved in the glycosylation process. PIGA-CDG is usually diagnosed through genetic blood tests, either as part of an epilepsy panel or through whole exome sequencing. Because PIGA encodes an enzyme essential for the expression of a host of surface proteins, the PIGA gene provides a highly sensitive system for the study of somatic mutations in hematopoietic cells. Diseases associated with PIGA include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 and Neurodevelopmental Disorder With Epilepsy And Hemochromatosis. Mar 17, 2023 · The PIGA gene (that’s short for phosphatidylinositol glycan biosynthesis class A gene) is responsible for providing instructions for making its namesake protein, the PIGA protein. . 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. Jan 15, 2026 · PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A) is a Protein Coding gene. 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 Mutations in the PIGA gene cause defects in GPI-anchored proteins which make them unstable or unable to attach to the surface.

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