Entity Details
| Primary name |
CKP2L_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8IYA6 |
| EntryName | CKP2L_HUMAN |
| FullName | Cytoskeleton-associated protein 2-like |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 745 |
| SequenceStatus | complete |
| DateCreated | 2008-03-18 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR029197 | Cytoskeleton-associated protein 2, C-terminal | Domain | Domain |
Diseases
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| Disease ID | Source | Name | Description |
| 272440 | OMIM | Filippi syndrome (FLPIS) | A rare disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |