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CCDC88C
coiled-coil and HOOK domain protein 88C
CCDC88C is located on the long (q) arm of chromosome 14, at band 14q32.11-q32.12. Arm ratio per GRCh38 - banding schematic.
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Overview
CCDC88C (coiled-coil and HOOK domain protein 88C) is a human gene located on chromosome 14 that encodes a protein featuring structural domains commonly involved in protein-protein interactions and intracellular organisation. The gene belongs to a broader family of coiled-coil domain-containing proteins, which typically function as scaffolding molecules that coordinate diverse cellular processes.
Whilst CCDC88C has been identified through genomic sequencing efforts, detailed characterisation of its biological role is still emerging. The presence of HOOK domains in the encoded protein suggests potential involvement in intracellular transport or signalling cascades, functions shared by related family members. Understanding CCDC88C function may contribute to knowledge of cellular coordination and communication pathways.
What the gene does
The CCDC88C protein is predicted to participate in intracellular signalling based on its structural features. Coiled-coil domains typically mediate protein-protein interactions by forming rope-like structures that bring multiple proteins together into functional complexes. These domains are commonly found in proteins that organise signalling platforms or coordinate responses to cellular signals.
HOOK domains, also present in this protein, are named after the Drosophila Hook protein and generally participate in organelle positioning and intracellular transport processes. Proteins containing HOOK domains often interact with microtubule-associated machinery, suggesting CCDC88C may help coordinate the spatial organisation of cellular components or signalling molecules.
The precise molecular pathways regulated by CCDC88C remain to be fully elucidated. Current evidence suggests the protein may function as a scaffolding molecule, bringing together different signalling components to facilitate efficient cellular responses. Further research is needed to identify specific binding partners and downstream effects of CCDC88C activity.
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Chromosome location
CCDC88C is located on the long arm of chromosome 14, specifically within the cytogenetic band 14q32.11-q32.12. This chromosomal region contains numerous genes and has been studied in relation to various genomic rearrangements. The precise number of exons comprising CCDC88C and detailed structural features of the genomic locus have not been extensively documented in current databases.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein. Whilst the gene name indicates the presence of coiled-coil motifs and a HOOK domain based on sequence predictions, specific domain boundaries and three-dimensional structural information remain to be determined through experimental studies such as X-ray crystallography or cryo-electron microscopy.
Key variants
Genetic variants in CCDC88C are catalogued in public databases such as ClinVar, which collects reports of human genetic variation and their relationship to health. As with many genes whose function is still being characterised, the clinical significance of most CCDC88C variants remains uncertain. Determining whether a specific variant affects protein function typically requires functional studies alongside clinical correlation data from multiple affected individuals.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1219C>T | p.Arg407Ter | Pathogenic/Likely pathogenic | ★★☆☆ | not provided |
c.1420_1421del | p.Ser474fs | Pathogenic/Likely pathogenic | ★★☆☆ | Spinocerebellar ataxia type 40 |
c.5101C>T | p.Arg1701Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Spinocerebellar ataxia type 40 |
c.5273_5276del | p.Thr1758fs | Pathogenic/Likely pathogenic | ★★☆☆ | Hydrocephalus, nonsyndromic, autosomal recessive 1 |
c.934C>T | p.Arg312Ter | Pathogenic | ★★☆☆ | Spinocerebellar ataxia type 40 |
c.1359del | p.Phe453fs | Pathogenic | ★☆☆☆ | Hydrocephalus, nonsyndromic, autosomal recessive 1 |
c.2646del | p.Ala883fs | Pathogenic | ★☆☆☆ | Fetal anomalies with a likely genetic cause |
c.3541C>T | p.Gln1181Ter | Pathogenic | ★☆☆☆ | not provided |
c.5323C>T | p.Gln1775Ter | Pathogenic | ★☆☆☆ | not provided |
c.874C>T | p.Gln292Ter | Pathogenic | ★☆☆☆ | not provided |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
No specific inherited conditions have been definitively linked to pathogenic variants in CCDC88C in current medical literature. As research into this gene progresses, potential associations between CCDC88C variants and human disease phenotypes may emerge. Genes encoding signalling and scaffolding proteins can sometimes harbour variants that contribute to developmental disorders or cellular dysfunction when the encoded protein's activity is significantly disrupted.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the CCDC88C protein do in cells?
The CCDC88C protein is thought to function in intracellular signalling and organisation based on its structural domains. Coiled-coil regions typically facilitate protein-protein interactions, whilst HOOK domains are often involved in organelle positioning and transport processes.
Is CCDC88C testing available through the NHS?
CCDC88C is not currently included in NHS Genomic Medicine Service panels for routine clinical testing. Genetic analysis of this gene would typically only be performed in research settings or specialised diagnostic contexts.
How common are variants in CCDC88C?
Like all human genes, CCDC88C shows natural variation across populations. The clinical significance of most variants remains uncertain, as detailed studies linking specific genetic changes to health outcomes are still limited for this gene.