CCDC51
Description
The CCDC51 (coiled-coil domain containing 51) is a protein-coding gene located on chromosome 3.
The CCDC51 gene encodes a protein that forms a potassium channel in the inner membrane of mitochondria. This channel, known as the mitochondrial ATP-gated potassium channel (mitoK(ATP)), is made up of four CCDC51 subunits and four subunits of another protein called ABCB8/MITOSUR. The channel's activity is regulated by ATP levels, with high ATP levels closing the channel and low ATP levels opening it. This allows for the controlled movement of potassium ions across the mitochondrial membrane, which is essential for maintaining the proper volume of the mitochondrial matrix. CCDC51 may play a role in cellular metabolism by helping to regulate the mitochondrial matrix volume, particularly under stress conditions.
CCDC51 is also known as MITOK.
Associated Diseases
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin D disease
- delta-beta-thalassemia
- dominant beta-thalassemia
- diabetes mellitus, permanent neonatal 4
- hemoglobin E-beta-thalassemia syndrome
- hemoglobin C-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- diabetes mellitus, transient neonatal, 3
- hemoglobin E disease
- hemoglobin H disease
- permanent neonatal diabetes mellitus 1
- glycogen storage disorder due to hepatic glycogen synthase deficiency
- beta-thalassemia-X-linked thrombocytopenia syndrome
