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Article

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

American journal of human genetics - 10 Feb 2012

Johnston Jennifer J, Gropman Andrea L, Sapp Julie C, Teer Jamie K, Martin Jodie M, Liu Cyndi F, Yuan Xuan, Ye Zhaohui, Cheng Linzhao, Brodsky Robert A, Biesecker Leslie G

Abstract excerpt

Phosphatidylinositol glycan class A (PIGA) is involved in the first step of glycosylphosphatidylinositol (GPI) biosynthesis. Many proteins, including CD55 and CD59, are anchored to the cell by GPI. Loss of CD55 and CD59 on erythrocytes causes complement-mediated lysis in paroxysmal nocturnal hemoglobinuria (PNH), a disease that manifests after clonal expansion of hematopoietic cells with somatic PIGA mutations....

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Source

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Identifiers

PMID: 22305531
DOI: 10.1016/j.ajhg.2011.11.031
PMCID: PMC3276655

Genes

PIGA
GPI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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