Entity Details
| Primary name |
CCD39_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9UFE4 |
| EntryName | CCD39_HUMAN |
| FullName | Coiled-coil domain-containing protein 39 |
| TaxID | 9606 |
| Evidence | evidence at transcript level |
| Length | 941 |
| SequenceStatus | complete |
| DateCreated | 2006-05-16 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR033290 | Coiled-coil domain-containing protein 39 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 613807 | OMIM | Ciliary dyskinesia, primary, 14 (CILD14) | A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry. The disease is characterized by primary ciliary dyskinesia with inner dynein arm (IDA) defects and axonemal dizorganisation: defects in CCDC39 and CCDC40 constitute the major cause of this phenotype. |
Interactions
2 interactions