Entity Details
| Primary name |
C10_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q99622 |
| EntryName | C10_HUMAN |
| FullName | Protein C10 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 126 |
| SequenceStatus | complete |
| DateCreated | 2000-05-30 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR026317 | Protein C10 | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 218340 | OMIM | Temtamy syndrome (TEMTYS) | A mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus. The disease is caused by variants affecting the gene represented in this entry. A variant resulting in a GUG start codon may be able to produce some protein because of a consensus Kozak sequence, although less efficiently than the wild type. This would explain the phenotypic variability observed. |
Interactions
2 interactions