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.

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 serves to anchor proteins to the cell surface.

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-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.

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.

PIGA-CDG is an extremely rare genetic disorder impacting children from birth. It is also referred to as PIGA deficiency or Multiple Congenital Anomalies-Hypotonia-Seizures syndrome type 2 (MCAHS2). What does the PIGA gene do in the body?

2022年3月23日 · PNH is linked to a difference in the phosphatidylinositol glycan anchor biosynthesis class A (PIGA) gene. The action of this gene creates a group of red blood cells …

PIGA-CDG.org was created to help parents, caregivers and medical professionals learn more about this rare genetic mutation, and as a place to share different experiences and challenges when dealing with this disorder.

2024年4月3日 · 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.

2023年3月17日 · 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.