1-phosphatidylinositol 4,5-bisphosphate Phosphodiesterase gamma-2
Das PLCG2-Gen kodiert eine transmembanöses Enzym welches n der Signaltransduktion von Wachstum und Immunregulation beteiligt ist. Mutationen führen zu autosomal dominanten Erkrankungen wie Autoinflammation, Antikörpermangel und Immundysregulations-Syndrom und Familiäres kälteinduziertes autoinflammatorisches Syndrom 3.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Argeson AC et al. (1995) Phospholipase C gamma-2 (Plcg2) and phospholipase C gamma-1 (Plcg1) map to distinct regions in the human and mouse genomes.
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2. |
Hernandez D et al. (1994) Mapping the gene that encodes phosphatidylinositol-specific phospholipase C-gamma 2 in the human and the mouse.
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3. |
Kang JS et al. (1996) Cloning and functional analysis of the hematopoietic cell-specific phospholipase C(gamma)2 promoter.
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4. |
Patterson RL et al. (2002) Phospholipase C-gamma is required for agonist-induced Ca2+ entry.
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5. |
Yu P et al. (2005) Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2+ entry.
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6. |
Mao D et al. (2006) PLCgamma2 regulates osteoclastogenesis via its interaction with ITAM proteins and GAB2.
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7. |
Everett KL et al. (2009) Characterization of phospholipase C gamma enzymes with gain-of-function mutations.
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8. |
Ombrello MJ et. al. (2012) Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.
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9. |
Zhou Q et al. (2012) A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
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Update: 14. August 2020