Entity Details
| Primary name |
CHKB_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9Y259 |
| EntryName | CHKB_HUMAN |
| FullName | Choline/ethanolamine kinase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 395 |
| SequenceStatus | complete |
| DateCreated | 2000-05-30 |
| DateModified | 2021-06-02 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR011009 | Protein kinase-like domain superfamily | Family | Homologous superfamily |
| IPR026712 | Choline/Ethanolamine kinase | Family | Family |
Diseases
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| Disease ID | Source | Name | Description |
| 602541 | OMIM | Muscular dystrophy, congenital, megaconial type (MDCMC) | An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center. The disease is caused by variants affecting the gene represented in this entry. |
Drugs
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| Drug | Name | Source | Type |
| DB00122 | Choline | Drugbank | small molecule |
| DB14006 | Choline salicylate | Drugbank | small molecule |
Interactions
0 interactions
| Interactor | Partner | Sources | Publications | Link |