| Type | Description |
|---|---|
| Definition | OPA3 outer mitochondrial membrane lipid metabolism regulator |
| Date | Results | Publications |
|---|---|---|
| 2020-08-12 15:45:00 | Homozygous OPA3 mutation is associated with 3-methylglutaconic aciduria type III and optic atrophy. | 31928268 |
| 2019-12-14 11:05:00 | Low OPA3 expression is associated with squamous cell carcinoma in Paranasal Sinus Neoplasms. | 30991875 |
| 2015-01-10 12:11:00 | Mutations of the OPA3 gene can cause either autosomal dominant or autosomal recessive optic atrophy. | 25205859 |
| 2014-06-07 10:55:00 | Report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum and its prevalence in a large cohort of ADOA patients, the associated clinical phenotype and the functional characterisation of a newly identified OPA3 mutant. | 24136862 |
| 2013-08-31 10:39:00 | A novel missense mutation identifies OPA3 as the cause of a complex neurological disorder with marked lower limb dystonia. | 23700088 |
| Type | IDs |
|---|---|
| Synonymous | MGA3 |
| Gene |
UniProtKB-ID:
OPA3_HUMAN,
B4DK77_HUMAN
UniprotKB:
Q9H6K4,
B4DK77
UniParc:
UPI0000140FD5,
UPI0000130D53,
UPI00017A755E
EMBL:
BC005059,
AK098798,
AC011480,
AC006117,
BC047316,
AK025840,
AC006261,
BC064146,
AK296429
Ensembl:
ENSG00000125741
KO:
hsa:80207
|
| Nucleutide sequences |
EMBL-CDS:
AAH64146.1,
AAH05059.1,
AAH47316.1,
BAC05415.1,
BAB15255.1,
BAG59089.1
Ensembl_TRS:
ENST00000263275,
ENST00000323060,
ENST00000544371
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000263275,
ENSP00000319817,
ENSP00000442839
RefSeq:
NP_079412.1,
XP_006723466.1,
NP_001017989.2
|
| Others |
UniRef100:
UniRef100_Q9H6K4
UniRef90:
UniRef90_Q9H6K4
UniRef50:
UniRef50_Q9H6K4
UniGene:
Hs.466945,
Hs.723713
CCDS:
CCDS12668.1,
CCDS33052.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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