Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

PIGA-Gen

Das Gen kodiert ein Protein , welches für die Biosynthese der GPI-Anker erforderlich ist. GPI-Anker sind Glycolipide, die für die auf der Oberfläche von Blutzellen die Interaktionen steuern. Mutationen begünstigen die Entwicklung der paroxysmalen nächtlichen Hämoglobinurie. Trunkierende Mutation können auch x-chromosomalen Entwicklungsstörungen hervorrufen.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Paroxysmale nächtliche Hämoglobinurie
PIGA

Referenzen:

1.

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

external link
2.

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

external link
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.

external link
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.

external link
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.

external link
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.

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
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.

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
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.

external link
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.

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
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.

external link
29.

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

external link
30.

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

external link
31.

NCBI article

NCBI 5277 external link
32.

OMIM.ORG article

Omim 311770 external link
33.

Orphanet article

Orphanet ID 231527 external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum