Ccdc88C Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Ccdc88C Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@van2019]
CCDC88C (Coiled-Coil Domain Containing Protein 88C), also known as Daipring or CCDC88C, encodes a large scaffolding protein involved in neuronal development, Purkinje cell function, and neurodegeneration. [@takayama2014]
Gene Overview
Function
CCDC88C/Daipring is a large coiled-coil domain-containing protein primarily expressed in the brain, especially in Purkinje cells, where it plays critical roles in neuronal development and function.
Key Functions:
Purkinje Cell Development: Essential for Purkinje cell dendrite formation and synapse development
Dendritic Spine Morphogenesis: Regulates spine number and morphology
Cytoskeletal Regulation: Associates with actin cytoskeleton
Expression Pattern:
High Expression: Cerebellum (Purkinje cells), cerebral [cortex](/brain-regions/cortex), [hippocampus](/brain-regions/hippocampus)
Subcellular Localization: Cytosolic, enriched in dendritic processes
Cell Type Specificity: Predominantly [neurons](/entities/neurons), especially Purkinje cells
Disease Associations
Key Disease Links:
Mutations:
SCA15: Missense and deletion mutations in CCDC88C cause pure cerebellar ataxia
Mutations affect protein stability and function
Reduced Daipring leads to Purkinje cell dysfunction
Therapeutic Implications
Ataxia Treatment:
No disease-modifying treatments currently available
Physical therapy and occupational therapy for symptom management
Gene Therapy:
AAV-mediated gene delivery to restore CCDC88C function
Small molecule approaches to enhance Purkinje cell function
Overview
Ccdc88C Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Background
The study of Ccdc88C Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
See Also
[Related Topics](/index)
External Links
References
[Tsutsumi M, et al, (2015) (2015)](https://pubmed.ncbi.nlm.nih.gov/26468899/)
[van Rens J, et al, (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31613351/)
[Takayama K, et al, (2014) (2014)](https://pubmed.ncbi.nlm.nih.gov/25194867/)
[Onodera O, et al, (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31613352/)
[Wang PS, et al, (2019) (2019)](https://pubmed.ncbi.nlm.nih.gov/31168823/)