| Type | Description |
|---|---|
| Definition | transmembrane protein 126A |
| Date | Results | Publications |
|---|---|---|
| 2019-10-12 11:57:00 | The loss of TMEM126A activated extracellular matrix (ECM) remodeling and promoted epithelial-to-mesenchymal transition (EMT). Moreover, TMEM126A silencing induced reactive oxygen species production and mitochondrial membrane potential depolarization. | 30393159 |
| 2019-10-05 11:00:00 | Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports | 30961538 |
| 2013-08-10 10:36:00 | TMEM126A is a mitochondrial located mRNA (MLR) that may be translated in the mitochondrial surface and the protein is subsequently imported to the inner membrane | 23500070 |
| 2012-11-17 10:24:00 | The p.Arg55X mutation in TMEM126A, homozygous in all affected siblings and heterozygous in both unaffected parents, has been found in a Moroccan family with autosomal recessive optic atrophy. | 22815638 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| Type | IDs |
|---|---|
| Synonymous | OPA7 |
| Gene |
UniProtKB-ID:
T126A_HUMAN
UniprotKB:
Q9H061
UniParc:
UPI0001F78299,
UPI0000037C1F
EMBL:
AP000642,
BC007875,
CH471076,
AL136941,
AK312081
Ensembl:
ENSG00000171202
KO:
hsa:84233
|
| Nucleutide sequences |
EMBL-CDS:
BAG35017.1,
CAB66875.1,
EAW75102.1,
AAH07875.1
Ensembl_TRS:
ENST00000528105,
ENST00000532180,
ENST00000304511
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000434357,
ENSP00000436590,
ENSP00000306887
RefSeq:
NP_115649.1,
NP_001231664.1
|
| Others |
UniRef100:
UniRef100_Q9H061
UniRef90:
UniRef90_Q9H061
UniRef50:
UniRef50_Q9H061
UniGene:
Hs.533725
CCDS:
CCDS58165.1,
CCDS8268.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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