Structural highlights
Disease
[CIZ1_HUMAN] Adult-onset cervical dystonia, DYT23 type. Defects in CIZ1 may be a cause of adult onset primary cervical dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Cervical dystonia or spasmodic torticollis, the most common form of focal dystonia, is characterized by involuntary contractions of the neck muscles, which produce abnormal posturing of the head upon the trunk.
Function
[CIZ1_HUMAN] May regulate the subcellular localization of CIP/WAF1.[ERH_HUMAN] May have a role in the cell cycle.
