Entity Details
| Primary name |
KBTBD_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | C9JR72 |
| EntryName | KBTBD_HUMAN |
| FullName | Kelch repeat and BTB domain-containing protein 13 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 458 |
| SequenceStatus | complete |
| DateCreated | 2010-05-18 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR000210 | BTB/POZ domain | Domain | Domain |
| IPR006652 | Kelch repeat type 1 | Repeat | Repeat |
| IPR011333 | SKP1/BTB/POZ domain superfamily | Family | Homologous superfamily |
| IPR015915 | Kelch-type beta propeller | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 609273 | OMIM | Nemaline myopathy 6 (NEM6) | A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction