Entity Details
| Primary name |
CE85L_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q5SZL2 |
| EntryName | CE85L_HUMAN |
| FullName | Centrosomal protein of 85 kDa-like |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 805 |
| SequenceStatus | complete |
| DateCreated | 2007-08-21 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR029778 | Centrosomal protein of 85kDa-like | Family | Family |
| IPR040210 | Cep85/Cep85L | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 618873 | OMIM | Lissencephaly 10 (LIS10) | A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS10 is an autosomal dominant form clinically characterized by variably delayed development, mildly to moderately impaired intellectual development, language delay, and seizures. Some patients have normal early development and borderline to mild cognitive impairment. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
5 interactions