CTNNBIP1
Description
The CTNNBIP1 (catenin beta interacting protein 1) is a protein-coding gene located on chromosome 1.
CTNNBIP1 (Beta-catenin-interacting protein 1) is a protein encoded by the CTNNBIP1 gene. It binds to CTNNB1 (beta-catenin) and prevents its interaction with TCF (T-cell transcription factor) family members. CTNNBIP1 acts as a negative regulator of the Wnt signaling pathway.
CTNNBIP1 prevents the binding of CTNNB1 to TCF family members, which in turn inhibits the Wnt signaling pathway.
CTNNBIP1 is also known as ICAT.
Associated Diseases
- thrombocythemia 2
- beta-thalassemia-X-linked thrombocytopenia syndrome
- cancer
- familial isolated congenital asplenia
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- primary familial polycythemia due to EPO receptor mutation
- thrombocytopenia 4
- thrombocytopenia 7
- erythroleukemia, familial, susceptibility to
- dehydrated hereditary stomatocytosis
- thrombocytopenia, anemia, and myelofibrosis
