Entity Details
| Primary name |
KY_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q8NBH2 |
| EntryName | KY_HUMAN |
| FullName | Kyphoscoliosis peptidase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 661 |
| SequenceStatus | complete |
| DateCreated | 2007-05-29 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Cytoplasm |
Domains
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| Domain | Name | Category | Type |
| IPR002931 | Transglutaminase-like | Domain | Domain |
| IPR038765 | Papain-like cysteine peptidase superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 617114 | OMIM | Myopathy, myofibrillar, 7 (MFM7) | A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM7 is an autosomal recessive form, clinically characterized by early childhood onset of slowly progressive muscle weakness and mild atrophy primarily affecting the lower limbs, associated with joint contractures. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction