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Details of COQ6 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| COQ6 | --- | Q9Y2Z9 | COQ6_HUMAN | 51004
| ENSG00000119723
| Ubiquinone biosynthesis monooxygenase COQ6 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]: An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis. Note=The disease is caused by mutations affecting the gene represented in this entry. |
614650 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Coq6 | FBgn0031713 | coq-6 | |
