Ccdc88A — Coiled Coil Domain Containing 88A is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Ccdc88A — Coiled Coil Domain Containing 88A is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene">
<div class="infobox-header">CCDC88A Gene</div>
<div class="infobox-row">
<div class="infobox-label">Gene Symbol</div>
<div class="infobox-value">CCDC88A</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Full Name</div>
<div class="infobox-value">Coiled-Coil Domain Containing 88A (Girdin)</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Chromosomal Location</div>
<div class="infobox-value">2p16.3</div>
</div>
<div class="infobox-row">
<div class="infobox-label">NCBI Gene ID</div>
<div class="infobox-value"><a href="https://www.ncbi.nlm.nih.gov/gene/55704" target="_blank">55704</a></div>
</div>
<div class="infobox-row">
<div class="infobox-label">OMIM</div>
<div class="infobox-value">—</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Ensembl ID</div>
<div class="infobox-value">ENSG00000115355</div>
</div>
<div class="infobox-row">
<div class="infobox-label">UniProt ID</div>
<div class="infobox-value"><a href="https://www.uniprot.org/uniprot/Q9Y4G2" target="_blank">Q9Y4G2</a></div>
</div>
<div class="infobox-row">
<div class="infobox-label">Associated Diseases</div>
<div class="infobox-value">[Alzheimer's Disease](/diseases/alzheimers-disease), [Parkinson's Disease](/diseases/parkinsons-disease), [Amyotrophic Lateral Sclerosis](/diseases/als)</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Inheritance</div>
<div class="infobox-value">—</div>
</div>
</div>
This page provides comprehensive information about the protein/gene, its function in the nervous system, and its role in neurodegenerative diseases.
CCDC88A, also known as Girdin (G protein-interacting protein, also called Akt1/PKB interacting protein), is an actin-binding protein that plays critical roles in cytoskeletal dynamics, cell migration, and intracellular signaling.
Key functions include:
| Disease | Evidence | Mechanism |
|---------|----------|-----------|
| [Alzheimer's Disease](/diseases/alzheimers-disease) | GWAS, expression studies | Impaired autophagy, synaptic dysfunction |
| [Parkinson's Disease](/diseases/parkinsons-disease) | Genetic associations | [Alpha-synuclein](/proteins/alpha-synuclein) interaction |
| ALS | Expression studies | Motoneuron vulnerability |
CCDC88A variants have been associated with neurodegenerative diseases through its roles in protein quality control, cytoskeletal integrity, and cell survival pathways.
CCDC88A is expressed in:
Research on CCDC88A/Girdin in neurodegeneration focuses on its role in actin cytoskeleton dynamics and autophagy. The protein's involvement in AMPA receptor trafficking suggests potential therapeutic applications for synaptic dysfunction in AD<sup>[6]</sup>. Modulators of CCDC88A phosphorylation state are being investigated as potential neuroprotective agents.
The intersection of CCDC88A function with neurotrophin signaling pathways provides additional therapeutic opportunities. Understanding how CCDC88A integrates signals from BDNF and other growth factors may reveal novel approaches for promoting neuronal survival<sup>[7]</sup>.
The study of Ccdc88A — Coiled Coil Domain Containing 88A 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.
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