PIGA


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PIGA

A gene on chromosome Xp22.1 that encodes a transmembrane protein required for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, a very early intermediate in GPI-anchor biosynthesis.

Molecular pathology
Defects in PIGA cause multiple congenital anomalies-hypotonia-seizures syndrome type 2 and paroxysmal nocturnal haemoglobinuria.
References in periodicals archive ?
63) Takeda in our laboratory demonstrated in 1993 that transfection of the PIGA cDNA restored GPI-AP expression on these PNH cells, that the affected B-lymphoblastoid cells and affected granulocytes, but not wild-type B-lymphoblastoid cells from the same patients, had PIGA mutations, and that the PIGA gene is X-linked.
Owing to X-chromosome inactivation, only one PIGA allele is active in female hematopoietic stem cells and somatic mutations in the active PIGA cause GPI deficiency.
Among the 26 genes involved in GPI biosynthesis, transfer, and remodeling, only PIGA is X-linked and all of the others are autosomal.
These notions have been introduced in [9] for characterizing the Hermitian self-dual abelian codes in PIGAs.
Honeywell, won a $10 million cost-plus-fixed-fee contract to conduct ongoing repairs of Pendulous Integrating Gyroscopic Accelerometers -- PIGA, an intercontinental ballistic missile component -- for the U.