| Type | Description |
|---|---|
| Definition | coenzyme Q4 |
| Date | Results | Publications |
|---|---|---|
| 2019-03-16 10:17:00 | Based on the genetic testing, preimplantation and prenatal diagnoses were performed, confirming that the next offspring of this family was unaffected. Our cases expand the phenotypic spectrum of COQ4 mutations and the genotypic spectrum of Leigh syndrome | 30659264 |
| 2018-07-07 10:49:00 | The COQ4 mutation was CRISPR/Cas9 edited resulting in isogenic, diploid and off-target free COQ4-corrected iPSCs. | 28465093 |
| 2017-12-16 11:02:00 | Three genes in our epilepsy cohort (COQ4, DNM1, and PURA), accounting for 14% (3/21) of all novel genetic etiologies identified in patients with epilepsy, were subsequently confirmed in independent publications. | 26795593 |
| 2016-06-04 10:46:00 | five recessive missense mutations in COQ4 segregating with lethal neonatal mitochondrial encephalomyopathy in four families of Ashkenzi Jews | 26185144 |
| 2015-04-11 13:40:00 | COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. | 25658047 |
| Type | IDs |
|---|---|
| Synonymous | CGI-92, COQ10D7 |
| Gene |
UniProtKB-ID:
COQ4_HUMAN,
A0A024R890_HUMAN
UniprotKB:
Q9Y3A0,
A0A024R890
UniParc:
UPI000013E660,
UPI0001611D4B,
UPI0000EE55EA
EMBL:
BC011895,
EU216420,
EU216423,
CH471090,
AK313650,
EU216419,
EU216422,
EU216421,
AF151850,
AL359091
Ensembl:
ENSG00000167113
KO:
hsa:51117
|
| Nucleutide sequences |
EMBL-CDS:
ABW91142.1,
AAD34087.1,
ABW91145.1,
ABW91144.1,
ABW91141.1,
BAG36405.1,
EAW87776.1,
AAH11895.1,
ABW91143.1,
EAW87777.1,
EAW87774.1
Gene_ORFName:
CGI-92,
hCG_2021742
Ensembl_TRS:
ENST00000300452
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000300452
RefSeq:
NP_057119.3,
NP_001292871.2,
XP_016870281.1,
XP_016870282.1
|
| Others |
UniRef100:
UniRef100_A0A024R890,
UniRef100_Q9Y3A0
UniRef90:
UniRef90_Q9Y3A0,
UniRef90_A0A024R890
UniRef50:
UniRef50_Q9Y3A0,
UniRef50_A0A2I3SEH7
UniGene:
Hs.98541
CCDS:
CCDS6898.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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