KCTD11
Description
The KCTD11 (potassium channel tetramerization domain containing 11) is a protein-coding gene located on chromosome 17.
KCTD11 is a protein-coding gene.
KCTD11 plays a crucial role in neuronal differentiation, acting as both a marker and regulator of this process. It is upregulated by various neurogenic signals including retinoic acid, epidermal growth factor (EGF), and nerve growth factor (NGFB). KCTD11 promotes apoptosis, growth arrest, and the expression of the cyclin-dependent kinase inhibitor CDKN1B. It functions as a tumor repressor, inhibiting cell growth and tumorigenicity in medulloblastoma (MDB). KCTD11 acts as a substrate-specific adapter for the BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex, targeting HDAC1. It antagonizes the Hedgehog pathway, affecting the nuclear transfer of the transcription factor GLI1 and maintaining cerebellar granule cells in an undifferentiated state. This effect likely occurs through the downregulation of HDAC1, keeping GLI1 acetylated and inactive. When KCTD11 is knocked down, Hedgehog antagonism is impaired, and proliferation of granule cells is sustained. KCTD11 activates the caspase cascade.
KCTD11 is also known as C17orf36, KCASH1, REN, REN/KCTD11.
Associated Diseases
- type 1 diabetes mellitus
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- primary familial polycythemia due to EPO receptor mutation
- systemic lupus erythematosus
- alpha thalassemia-intellectual disability syndrome type 1
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- delta-beta-thalassemia
- erythrocytosis, familial, 6
