TMEM126B Chromosome 11
Transmembrane protein 126B
Upload your DNA to see your personal genotypes for variants in TMEM126B.
What This Gene Does
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]
Gene Info
Gene Group
Mitochondrial complex I assembly complex
Locus Type
gene with protein product
Location
11q14.1
Ensembl
ENSG00000171204
Associated Conditions (7)
Mitochondrial complex I deficiency
nuclear type 29
Inborn genetic diseases
TMEM126B-related disorder
Mitochondrial disease
Colon adenocarcinoma
nuclear type 1
Key Variants
RS549227957
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 29, Mitochondrial complex I deficiency
Health Risk
RS745630370
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767065263
Likely pathogenic
TMEM126B-related disorder, Mitochondrial complex I deficiency, nuclear type 29
Health Risk
RS774378991
Likely pathogenic
Health Risk
RS1261676471
Pathogenic
Mitochondrial complex I deficiency, nuclear type 29, Mitochondrial complex I deficiency
Health Risk
RS1461031913
Pathogenic
Health Risk
RS2082400132
Pathogenic
Health Risk
RS2153309845
Pathogenic
Health Risk
RS2490665160
Pathogenic
Health Risk
RS886037835
Pathogenic
Mitochondrial complex I deficiency, nuclear type 29, Mitochondrial disease
Health Risk
RS886037857
Pathogenic
Mitochondrial complex I deficiency, nuclear type 29, Mitochondrial complex I deficiency
Health Risk
RS141542003
Pathogenic/Likely pathogenic
Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 29
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS549227957 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex I deficiency, nuclear type 29, Mitochondrial complex I deficiency |
| RS745630370 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767065263 | Health Risk | Likely pathogenic | TMEM126B-related disorder, Mitochondrial complex I deficiency, nuclear type 29 |
| RS774378991 | Health Risk | Likely pathogenic | — |
| RS1261676471 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 29, Mitochondrial complex I deficiency |
| RS1461031913 | Health Risk | Pathogenic | — |
| RS2082400132 | Health Risk | Pathogenic | — |
| RS2153309845 | Health Risk | Pathogenic | — |
| RS2490665160 | Health Risk | Pathogenic | — |
| RS886037835 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 29, Mitochondrial disease |
| RS886037857 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 29, Mitochondrial complex I deficiency |
| RS141542003 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial disease, Mitochondrial complex I deficiency, nuclear type 29 |
| RS573006534 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 29, Colon adenocarcinoma |
| RS747181703 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 29, Mitochondrial complex I deficiency |
| RS752316853 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 1, nuclear type 29 |
| RS764565613 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 29, Mitochondrial complex I deficiency |