Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Phosphatidylinositol glycan anchor biosynthesis, class A

This gene encodes a protein required for synthesis of a GPI anchor. GPI anchor is a glycolipid found on many blood cells which is involved in cell interactions. Mutations may cause the development of paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder. Truncating mutations are found in patients with x-linked congenital developmental disorders.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Paroxysmal nocturnal hemoglobinuria
PIGA

References:

1.

Araten DJ et al. (1999) Clonal populations of hematopoietic cells with paroxysmal nocturnal hemoglobinuria genotype and phenotype are present in normal individuals.

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2.

Ueda E et al. (1992) Deficient surface expression of glycosylphosphatidylinositol-anchored proteins in B cell lines established from patients with paroxysmal nocturnal hemoglobinuria.

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3.

Hu R et al. (2005) PIG-A mutations in normal hematopoiesis.

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4.

None (2008) Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria.

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5.

Ware RE et al. (1994) Chromosomal assignment of genes involved in glycosylphosphatidylinositol anchor biosynthesis: implications for the pathogenesis of paroxysmal nocturnal hemoglobinuria.

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6.

Bessler M et al. (1994) Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

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7.

Takahashi M et al. (1993) Deficient biosynthesis of N-acetylglucosaminyl-phosphatidylinositol, the first intermediate of glycosyl phosphatidylinositol anchor biosynthesis, in cell lines established from patients with paroxysmal nocturnal hemoglobinuria.

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8.

Takeda J et al. (1993) Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.

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9.

Nagarajan S et al. (1995) Genetic defects underlying paroxysmal nocturnal hemoglobinuria that arises out of aplastic anemia.

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10.

Savoia A et al. (1996) Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.

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11.

Luzzatto L et al. (1997) Somatic mutations in paroxysmal nocturnal hemoglobinuria: a blessing in disguise?

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12.

Brodsky RA et al. (1997) Resistance to apoptosis caused by PIG-A gene mutations in paroxysmal nocturnal hemoglobinuria.

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13.

Nafa K et al. (1998) The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications.

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14.

Keller P et al. (1999) X inactivation and somatic cell selection rescue female mice carrying a Piga-null mutation.

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15.

Hirose S et al. (1992) Derivation and characterization of glycoinositol-phospholipid anchor-defective human K562 cell clones.

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16.

Stevens VL et al. (1991) Defective glycosyl phosphatidylinositol biosynthesis in extracts of three Thy-1 negative lymphoma cell mutants.

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17.

Sugiyama E et al. (1991) Identification of defects in glycosylphosphatidylinositol anchor biosynthesis in the Thy-1 expression mutants.

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18.

Sauer B et al. (1988) Site-specific DNA recombination in mammalian cells by the Cre recombinase of bacteriophage P1.

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19.

Nagarajan S et al. (1995) Identification of a PIG-A related processed gene on chromosome 12.

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20.

Miyata T et al. (1993) The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis.

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21.

Kawagoe K et al. (1994) Molecular cloning of murine pig-a, a gene for GPI-anchor biosynthesis, and demonstration of interspecies conservation of its structure, function, and genetic locus.

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22.

Ware RE et al. (1994) Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.

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23.

Iida Y et al. (1994) Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria.

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24.

Miyata T et al. (1994) Abnormalities of PIG-A transcripts in granulocytes from patients with paroxysmal nocturnal hemoglobinuria.

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25.

Nafa K et al. (1995) Mutations in the PIG-A gene causing paroxysmal nocturnal hemoglobinuria are mainly of the frameshift type.

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26.

Watanabe R et al. (1996) PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum.

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27.

Maugard C et al. (1997) Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test.

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28.

Watanabe R et al. (1998) The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

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29.

Ogata T et al. (1998) Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern.

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30.

Nafa K et al. (1998) New somatic mutation in the PIG-A gene emerges at relapse of paroxysmal nocturnal hemoglobinuria.

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31.

NCBI article

NCBI 5277 [^]
32.

OMIM.ORG article

Omim 311770 [^]
33.

Orphanet article

Orphanet ID 231527 [^]
34.

Wikipedia article

Wikipedia EN (PIGA) [^]
Update: April 29, 2019