Entity Details
| Primary name |
DLP1_HUMAN |
| Entity type |
UniProt |
| Source |
Source Link |
Details
| Accession | Q86YH6 |
| EntryName | DLP1_HUMAN |
| FullName | All trans-polyprenyl-diphosphate synthase PDSS2 |
| TaxID | 9606 |
| Evidence | evidence at protein level |
| Length | 399 |
| SequenceStatus | complete |
| DateCreated | 2005-08-16 |
| DateModified | 2021-06-02 |
Subcellular Location
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| Subcellular Location |
| Mitochondrion |
Domains
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| Domain | Name | Category | Type |
| IPR000092 | Polyprenyl synthetase | Family | Family |
| IPR008949 | Isoprenoid synthase domain superfamily | Family | Homologous superfamily |
Diseases
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| Disease ID | Source | Name | Description |
| 614652 | OMIM | Coenzyme Q10 deficiency, primary, 3 (COQ10D3) | A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. The disease is caused by variants affecting the gene represented in this entry. |
Interactions
1 interaction