TMEM126B, Official Symbol TMEM126Bprovided by HGNC Official Full Name transmembrane protein 126Bprovided by HGNC Primary source HGNC:HGNC:30883 See related Ensembl:ENSG00000171204 MIM:615533; AllianceGenome:HGNC:30883 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HT007; MC1DN29 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] Expression Ubiquitous expression in kidney (RPKM 18.2), fat (RPKM 17.4) and 25 other tissues See more Orthologs mouse all