TMEM126B
Summary: This gene encodes a mitochondrial transmembrane protein which is a component of the mitochondrial complex I assembly complex. The encoded protein serves as an assembly factor that is required for formation of the membrane arm of the complex. It interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 13. Naturally occurring mutations in this gene are associated with isolated complex I deficiency. A pseudogene of this gene has been defined on chromosome 9. [provided by RefSeq, Apr 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| transmembrane protein 126B | MIM:615533 | Ensembl:ENSG00000171204 | HGNC:HGNC:30883 | PA143485646 | 11q14.1 |
GO terms in TMEM126B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | ND | GO:0008150 | biological_process |
| BP | TAS | GO:0032981 | mitochondrial respiratory chain complex I assembly |
| CC | ND | GO:0005575 | cellular_component |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005743 | mitochondrial inner membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| MF | ND | GO:0003674 | molecular_function |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: TMEM126B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TMEM126B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1428517 | The citric acid (TCA) cycle and respiratory electron transport |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-163200 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
| reactome | R-HSA-611105 | Respiratory electron transport |
| reactome | R-HSA-6799198 | Complex I biogenesis |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TMEM126B
CLASSFICATION
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