MIB2
MIB2: A Genetic Regulator with Far-Reaching Implications
Description
MIB2, or Mind Bomb E3 Ubiquitin Protein Ligase 2, is a gene that plays a crucial role in cell division and development. It encodes a protein that regulates the activity of other proteins by attaching ubiquitin chains to them, marking them for degradation or other cellular processes. MIB2 is essential for the proper functioning of various cellular processes, including DNA replication, cell cycle progression, and DNA damage response.
Associated Diseases
Mutations in the MIB2 gene have been linked to several human diseases, including:
- Seckel Syndrome: A rare genetic disorder characterized by severe growth retardation, microcephaly, and distinctive facial features.
- Microcephalic Primordial Dwarfism: A similar disorder to Seckel Syndrome, but with less severe growth restriction.
- Cancers: MIB2 mutations have been implicated in the development of certain types of cancer, such as brain tumors and leukemia.
Did you Know ?
- Approximately 1 in every 100,000 people is affected by Seckel Syndrome, a disorder caused by mutations in the MIB2 gene.
