Entity Details
Details
| PrimaryID | 57107 |
| RefseqGene | NG_013033 |
| Symbol | PDSS2 |
| Name | decaprenyl diphosphate synthase subunit 2 |
| Chromosome | 6 |
| Location | 6q21 |
| TaxID | 9606 |
| Status | live |
| SourceGenome | genomic |
| SourceOrigin | natural |
| CreationDate | 2000-09-12 |
| ModificationDate | 2021-06-11 |
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
9 interactions