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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.

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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2.

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

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3.

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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4.

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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5.

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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6.

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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7.

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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8.

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

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9.

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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10.

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

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11.

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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12.

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

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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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18.

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

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19.

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

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20.

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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21.

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

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22.

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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23.

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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24.

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

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25.

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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26.

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

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27.

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

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28.

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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29.

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

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30.

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

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31.

NCBI article

NCBI 5277 external link
32.

OMIM.ORG article

Omim 311770 external link
33.

Orphanet article

Orphanet ID 231527 external link
34.

Wikipedia article

Wikipedia EN (PIGA) external link
Update: Aug. 14, 2020
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