CEP85L
CEP85L: A Protein with Roles in Cell Biology and Disease
Description
CEP85L (centrosomal protein 85 kilodalton-like) is a protein that plays a crucial role in various cellular processes. It is highly conserved across different species, indicating its essential function in cellular biology. CEP85L localizes to the centrosome, a cellular organelle that serves as the primary microtubule-organizing center. It participates in the formation, organization, and function of the mitotic spindle, a structure responsible for the separation of chromosomes during cell division.
Associated Diseases
Defects in CEP85L function have been linked to several human diseases:
- Microcephaly: A condition characterized by an abnormally small head and impaired brain development. CEP85L mutations are associated with microcephaly caused by defects in the centrosome.
- Seckel syndrome: A rare genetic disorder involving growth retardation, microcephaly, and distinctive facial features. CEP85L mutations are implicated in a subtype of Seckel syndrome known as microcephaly-seckel syndrome with developmental delay.
- Neural tube defects: Birth defects involving incomplete closure of the neural tube, which forms the brain and spinal cord. Cephalic neural tube defects, such as anencephaly and spina bifida, have been associated with CEP85L mutations.
- Cancer: CEP85L has been found to be overexpressed or altered in various types of cancer, including breast cancer, lung cancer, and leukemia. It is believed to promote tumorigenesis by regulating cell cycle progression and genomic stability.
Did you Know ?
Approximately 1 in 10,000 newborns have microcephaly caused by CEP85L mutations. This highlights the significant impact of CEP85L dysfunction on human health.
