Medical Knowledge Cockpit cerebellar ataxia, nonprogressive

• Phosphatidylinositol signaling system
  Homo sapiens (human) one gene

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CAMTA1

• A novel family of calmodulin-binding transcription activators in multicellular organisms

ITPR1

• Phosphorylation of the inositol 1,4,5-trisphosphate receptor by cyclic GMP-dependent protein kinase
• Calcineurin associated with the inositol 1,4,5-trisphosphate receptor-FKBP12 complex modulates Ca2+ flux
• Induction of inositol 1,4,5 trisphosphate receptor genes by ionizing radiation
• Multiple inositol 1,4,5-trisphosphate receptor isoforms are present in platelets

CAMTA1

Somatic tumors

epithelioid haemangioendothelioma

Tumor types germline

Cancer Syndrom

Translocation partner

WWTR1

Name

calmodulin binding transcription activator 1

Chromosome banding

1p36.31-p36.23

Cancer molecular gen.

Dom

Mutation type

T

Other syndrome disease