TMEM126B gene

transmembrane protein 126B

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Mitochondrial complex I deficiency

Cytogenetic Location: 11q14.1, which is the long (q) arm of chromosome 11 at position 14.1

Molecular Location: base pairs 85,628,573 to 85,636,539 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q14.1, which is the long (q) arm of chromosome 11 at position 14.1