KCTD3
Description
The KCTD3 (potassium channel tetramerization domain containing 3) is a protein-coding gene located on chromosome 1.
KCTD3 acts as an accessory subunit for the potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3). It enhances the expression and activity of HCN3 on the cell surface without altering its electrical properties, such as voltage dependence and kinetics.
KCTD3 is also known as NY-REN-45.
Associated Diseases
- isolated cerebellar hypoplasia/agenesis
- lysosomal storage disease
- hemoglobin D disease
- dominant beta-thalassemia
- hemoglobin H disease
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin C-beta-thalassemia syndrome
- hemoglobin E disease
- Lipedema
- delta-beta-thalassemia
- alpha-thalassemia-myelodysplastic syndrome
- hemoglobin E-beta-thalassemia syndrome
- lymphatic malformation 8
