FBXW12

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Description

The FBXW12 (F-box and WD repeat domain containing 12) is a protein-coding gene located on chromosome 3.

FBXW12 acts as a substrate recognition component within the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex. It plays a crucial role in promoting the degradation of the interleukin-22 receptor subunit IL22RA1, both in resting and IL22-stimulated conditions, by facilitating its ubiquitination. This process contributes to FBXW12's function as a cell growth suppressor.

FBXW12 is also known as FBW12, FBXO12, FBXO35.

Associated Diseases

• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• alpha thalassemia-intellectual disability syndrome type 1
• hemoglobin C-beta-thalassemia syndrome
• alpha-thalassemia-myelodysplastic syndrome
• dominant beta-thalassemia
• hemoglobin D disease
• amelogenesis imperfecta
• hemoglobin H disease
• hemoglobin E-beta-thalassemia syndrome
• delta-beta-thalassemia
• hemolytic anemia due to adenylate kinase deficiency
• Heinz body anemia
• beta-thalassemia-X-linked thrombocytopenia syndrome