KIAA0895
Kiaa0895: A Complex and Versatile Protein with Intriguing Roles in Health and Disease
Description
Kiaa0895, also known as E3 ubiquitin ligase DTX4, is a multifunctional protein that plays vital roles in cellular processes ranging from protein degradation to DNA damage repair. It belongs to the DTX family of ubiquitin ligases, enzymes that target proteins for degradation by the proteasome. Kiaa0895 is highly conserved across species, indicating its essential nature in biological systems.
Associated Diseases
Mutations in the kiaa0895 gene have been linked to several human diseases, including:
- Spinocerebellar Ataxia Type 17 (SCA17): This neurodegenerative disorder affects the cerebellum and spinal cord, leading to progressive loss of motor coordination. Mutations in kiaa0895 are a common cause of SCA17.
- Cerebral Palsy: Some studies suggest that mutations in kiaa0895 may contribute to the development of cerebral palsy, a group of disorders that affect movement and coordination in children.
- Intellectual Disability: Rare mutations in kiaa0895 have been found in individuals with intellectual disability.
Did you Know ?
Kiaa0895 is involved in the degradation of over 100 different proteins, indicating its broad-spectrum role in cellular regulation.
