Entity Details
| Primary name |
RSPH9_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9H1X1 |
| EntryName | RSPH9_HUMAN |
| FullName | Radial spoke head protein 9 homolog |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 276 |
| SequenceStatus | complete |
| DateCreated | 2005-08-30 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cell projection |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR006802 | Radial spokehead-like protein | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 612650 | OMIM | Ciliary dyskinesia, primary, 12 (CILD12) | 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 situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. 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. |
Interactions
3 interactions