| Type | Description |
|---|---|
| Definition | coenzyme Q6, monooxygenase |
| Date | Results | Publications |
|---|---|---|
| 2020-10-03 12:54:00 | Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype. | 30682496 |
| 2019-04-20 10:13:00 | CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel homozygous missense change in COQ6 gene: p.Pro261Leu. | 28044327 |
| 2017-08-19 11:36:00 | Primary CoQ10 deficiency due to COQ6 mutations should be considered in children presenting with both Steroid-Resistant Focal Segmental Glomerulosclerosis and sensorineural hearing loss. An early diagnosis of COQ6 mutations is essential because the condition is treatable when CoQ10 supplementation is started at the early stage. | 28117207 |
| 2015-06-27 10:07:00 | Data indicate a heterozygous loss-of-function coenzyme Q10 (CoQ10) biosynthesis monooxygenase 6 gene (COQ6)missense mutation in familial schwannomatosis. | 24763291 |
| 2011-07-16 11:17:00 | COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness | 21540551 |
| Type | IDs |
|---|---|
| Synonymous | CGI-10, CGI10, COQ10D6 |
| Gene |
UniProtKB-ID:
COQ6_HUMAN,
A0A0D9SFJ1_HUMAN
UniprotKB:
Q9Y2Z9,
A0A0D9SFJ1
UniParc:
UPI00001B2F36,
UPI00001FD838,
UPI000000CBDD,
UPI0000127F00
EMBL:
CH471061,
AK296040,
AC005480,
BC014483,
AF132944,
AK222965,
BX248000,
BC014181
Ensembl:
ENSG00000119723
KO:
hsa:51004
|
| Nucleutide sequences |
EMBL-CDS:
AAH14483.1,
AAH14181.1,
BAD96685.1,
EAW81148.1,
CAD62332.1,
BAH12244.1,
AAD27719.1,
EAW81146.1
Gene_ORFName:
CGI-10,
hCG_21715
Ensembl_TRS:
ENST00000394026,
ENST00000334571,
ENST00000629426
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000377594,
ENSP00000333946,
ENSP00000486650
RefSeq:
XP_016876841.1,
XP_011535109.1,
XP_011535111.1,
XP_011535112.1,
XP_024305387.1,
NP_872286.2,
XP_006720219.1,
XP_016876840.1,
XP_011535110.1,
NP_872282.1
|
| Others |
UniRef100:
UniRef100_A0A0D9SFJ1,
UniRef100_Q9Y2Z9
UniRef90:
UniRef90_Q9Y2Z9-2,
UniRef90_Q9Y2Z9
UniRef50:
UniRef50_Q9Y2Z9-2,
UniRef50_Q9Y2Z9
UniGene:
Hs.131555
CCDS:
CCDS9824.2,
CCDS9823.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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