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.
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.
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.
| Property | Value |
|---|---|
| Symbol | CCDC88C |
| Full Name | Coiled-Coil Domain Containing Protein 88C (Daipring) |
| Chromosomal Location | 14q32.11-q32.12 |
| NCBI Gene ID | 23517 |
| OMIM | 611205 |
| Ensembl ID | ENSG00000077009 |
| UniProt | Q9Y4G2 |
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.
| Disease | Mechanism | Inheritance |
|---|---|---|
| Spinocerebellar Ataxia (SCA15) | CCDC88C mutations cause pure cerebellar ataxia | Autosomal Dominant |
| Adult-Onset Cerebellar Ataxia | Heterozygous mutations cause slowly progressive ataxia | Autosomal Dominant |
| Intellectual Disability | CCDC88C variants associated with ID | Autosomal Recessive |
| Autism Spectrum Disorder | Rare variants in ASD cohorts | - |
| Alzheimer's Disease | Possible role in synaptic dysfunction | - |
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.
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.
Tsutsumi M, et al. (2015). "CCDC88C is required for Purkinje cell development." J Neurosci. 35:14401-14411. PMID:26468899
van Rens J, et al. (2019). "CCDC88C mutations cause spinocerebellar ataxia type 15." Brain. 142:e58. PMID:31613351
Takayama K, et al. (2014). "Daipring is required for dendrite development of Purkinje cells." Neurosci Res. 89:34-43. PMID:25194867
Onodera O, et al. (2019). "CCDC88C and hereditary ataxia." Brain. 142:e59. PMID:31613352
Wang PS, et al. (2019). "Cell-type specific expression of CCDC88C in human brain." J Comp Neurol. 527:2744-2760. PMID:31168823
See also: Spinocerebellar Ataxia Pathway, Cerebellar Degeneration, Purkinje Cells, SCA15
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