VIMP
VIMP Gene: A Key Player in Developmental Processes
Description
The VIMP gene (Vimentin-Interacting Protein) encodes a protein called vimentin-interacting protein (VIP). VIP is a cytoplasmic protein that plays a crucial role in various cellular processes, particularly during embryonic development and cellular migration. It interacts with vimentin, an intermediate filament protein, and regulates its assembly and disassembly, which is essential for cell shape changes and movement.
Associated Diseases
Mutations or alterations in the VIMP gene have been linked to several developmental disorders, including:
- VACTERL Association: A complex of birth defects characterized by vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities.
- Isolated Tracheoesophageal Fistula: A condition in which the esophagus and trachea are abnormally connected.
- Isolated Anorectal Malformations: Birth defects involving the formation of the anus or rectum.
- Ear and Hearing Defects: Including microtia, atresia, and deafness.
- Intellectual Disability: Cognitive impairments ranging from mild to severe.
Did you Know ?
According to studies, approximately 80% of individuals with VACTERL association have mutations in the VIMP gene. This highlights the significant role of VIP in the proper development and function of various organs and systems.
