TMEM126B

Chr 11

transmembrane protein 126B

Also known as: HT007, MC1DN29

NCBI Gene: 55863 ENSG00000171204 UniProt: Q8IUX1

This mitochondrial transmembrane protein functions as an assembly factor required for formation of the membrane arm of complex I within the MCIA assembly complex. Mutations cause mitochondrial complex I deficiency with autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation, consistent with the recessive disease pattern.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMitochondrial complex I deficiency, nuclear type 29

Clinical highlights

Gene-disease validity (ClinGen)

mitochondrial disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.64

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429