CCDC57
Description
The CCDC57 (coiled-coil domain containing 57) is a protein-coding gene located on chromosome 17.
CCDC57 (Coiled-coil domain-containing protein 57) is a human protein encoded by the CCDC57 gene. It is involved in a variety of cellular processes, including centriole duplication, mitosis, and ciliogenesis. Further details about the gene can be found on the UCSC Genome Browser.
CCDC57 acts as a versatile regulator in various cellular processes, including centriole duplication, mitosis, and ciliogenesis. It plays a pivotal role in connecting the centrosome to microtubule-mediated functions within the cell. As a crucial protein for centriole duplication, it facilitates the recruitment of essential proteins such as CEP63, CEP152, and PLK4 to the centrosome. Beyond its centrosomal role, CCDC57 also interacts with microtubules independently, influencing microtubule nucleation, stability, and the progression of mitosis.
CCDC57 is also known as -.
Associated Diseases
- hemoglobin E-beta-thalassemia syndrome
- hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
- hemoglobin D disease
- familial pseudohyperkalemia
- alpha thalassemia-intellectual disability syndrome type 1
- microcytic anemia with liver iron overload
- dehydrated hereditary stomatocytosis
- dominant beta-thalassemia
- delta-beta-thalassemia
- alpha-thalassemia-myelodysplastic syndrome
- hemoglobin C-beta-thalassemia syndrome
- hemoglobin E disease
