Type | Description |
---|---|
Definition | coenzyme Q8A |
Date | Results | Publications |
---|---|---|
2020-12-12 13:27:00 | Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. | 32337771 |
2020-02-22 10:34:00 | expand the clinical, molecular and biochemical spectrum of ADCK3 related CoQ10 deficiencies | 30968303 |
2017-09-02 13:56:00 | Loss of COQ8a results in cerebellar ataxia and coenzyme Q deficiency. | 27499294 |
2016-07-16 11:26:00 | ADCK3/COQ8 localises to mitochondrial cristae and is targeted to this organelle via the presence of an N-terminal localisation signal | 26866375 |
2016-01-30 10:31:00 | work reveals Mg(2+)-dependent ATPase activity of ADCK3, providing strong support for the theoretical prediction of this protein being a functional atypical kinase. | 25540914 |
Type | IDs |
---|---|
Synonymous | ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9 |
Gene |
UniProtKB-ID:
COQ8A_HUMAN
UniprotKB:
Q8NI60
UniParc:
UPI000006D3D9,
UPI0000074030,
UPI00004409B6,
UPI0000126D6B
EMBL:
BX648860,
AJ278126,
AK074693,
AF218003,
AB073905,
AL353689,
BC005171
Ensembl:
ENSG00000163050
KO:
hsa:56997
|
Nucleutide sequences |
EMBL-CDS:
AAH05171.2,
BAC11143.1,
CAC00482.1,
AAG17245.1,
CAH56132.1,
BAB91363.1
Gene_ORFName:
PP265
Ensembl_TRS:
ENST00000366778,
ENST00000366779,
ENST00000366777
|
Protein sequencees |
Ensembl_PRO:
ENSP00000355739,
ENSP00000355740,
ENSP00000355741
RefSeq:
XP_011542543.1,
XP_011542541.1,
NP_064632.2,
XP_005273258.1,
XP_024304286.1,
XP_016857341.1,
XP_011542540.1,
XP_024304285.1
|
Others |
UniRef100:
UniRef100_Q8NI60
UniRef90:
UniRef90_Q8NI60
UniRef50:
UniRef50_Q8NI60
UniGene:
Hs.118241
CCDS:
CCDS1557.1
|
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