Identity
HGNC
LOCATION
11q14.1
LOCUSID
ALIAS
HT007,MC1DN29
FUSION GENES
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: 55863
MIM: 615533
HGNC: 30883
Ensembl: ENSG00000171204
Variants:
dbSNP: 55863
ClinVar: 55863
TCGA: ENSG00000171204
COSMIC: TMEM126B
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36482121 | 2023 | Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency. | 0 |
| 36482121 | 2023 | Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency. | 0 |
| 29464284 | 2018 | Degradation of the mitochondrial complex I assembly factor TMEM126B under chronic hypoxia. | 21 |
| 29464284 | 2018 | Degradation of the mitochondrial complex I assembly factor TMEM126B under chronic hypoxia. | 21 |
| 27374773 | 2016 | Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. | 27 |
| 27374774 | 2016 | Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. | 32 |
| 27374773 | 2016 | Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. | 27 |
| 27374774 | 2016 | Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. | 32 |
Citation
Dessen P
TMEM126B (transmembrane protein 126B)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74788/case-report-explorer/gene-explorer/
