FBXW12
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
