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1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2

The PLCG2 gene encodes a transmembrane signaling enzyme that is involved in signal transduction in growth and immune responses. Mutations cause autosomal dominant autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3.

Genetests:

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

Related Diseases:

Autoinflammation, antibody deficiency, and immune dysregulation syndrome
PLCG2
Familial cold autoinflammatory syndrome 3
PLCG2

References:

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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10.
Update: Aug. 14, 2020
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