Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84233
MIM: 612988
HGNC: 25382
Ensembl: ENSG00000171202
Variants:
dbSNP: 84233
ClinVar: 84233
TCGA: ENSG00000171202
COSMIC: TMEM126A
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33879611 | 2021 | Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I. | 10 |
| 33882309 | 2021 | NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate. | 13 |
| 33879611 | 2021 | Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I. | 10 |
| 33882309 | 2021 | NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate. | 13 |
| 30393159 | 2019 | Loss of TMEM126A promotes extracellular matrix remodeling, epithelial-to-mesenchymal transition, and breast cancer metastasis by regulating mitochondrial retrograde signaling. | 14 |
| 30961538 | 2019 | Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. | 6 |
| 30393159 | 2019 | Loss of TMEM126A promotes extracellular matrix remodeling, epithelial-to-mesenchymal transition, and breast cancer metastasis by regulating mitochondrial retrograde signaling. | 14 |
| 30961538 | 2019 | Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports. | 6 |
| 23500070 | 2013 | TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane. | 12 |
| 23500070 | 2013 | TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane. | 12 |
| 22815638 | 2012 | TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. | 9 |
| 22815638 | 2012 | TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. | 9 |
| 20405026 | 2010 | Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. | 21 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20405026 | 2010 | Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy. | 21 |
Citation
Dessen P
TMEM126A (transmembrane protein 126A)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74787/chromosome-explorer/meetings/
