Aliases for TMEM126B Gene
External Ids for TMEM126B Gene
Previous GeneCards Identifiers for TMEM126B Gene
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]
GeneCards Summary for TMEM126B Gene
TMEM126B (Transmembrane Protein 126B) is a Protein Coding gene. Diseases associated with TMEM126B include Mitochondrial Complex I Deficiency and Mitochondrial Metabolism Disease. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. An important paralog of this gene is TMEM126A.
UniProtKB/Swiss-Prot for TMEM126B Gene
Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.