Entity Details
| Primary name |
PPCS_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q9HAB8 |
| EntryName | PPCS_HUMAN |
| FullName | Phosphopantothenate--cysteine ligase |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 311 |
| SequenceStatus | complete |
| DateCreated | 2004-05-10 |
| DateModified | 2021-06-02 |
Subcellular Location
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Domains
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| Domain | Name | Category | Type |
| IPR007085 | DNA/pantothenate metabolism flavoprotein, C-terminal | Domain | Domain |
| IPR035929 | CoaB-like superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 618189 | OMIM | Cardiomyopathy, dilated 2C (CMD2C) | A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction