TMEM126A Chromosome 11
Transmembrane protein 126A
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What This Gene Does
The protein encoded by this gene is a mitochondrial membrane protein of unknown function. Defects in this gene are a cause of optic atrophy type 7 (OPA7). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
Mitochondrial respiratory chain complex assembly factors
Locus Type
gene with protein product
Location
11q14.1
Ensembl
ENSG00000171202
Associated Conditions (3)
Autosomal recessive optic atrophy
OPA7 type
TMEM126A-related disorder
Key Variants
RS146573578
Conflicting classifications of pathogenicity
Autosomal recessive optic atrophy, OPA7 type, Autosomal recessive optic atrophy
Health Risk
RS36100288
Conflicting classifications of pathogenicity
Autosomal recessive optic atrophy, OPA7 type, TMEM126A-related disorder
Health Risk
RS369467944
Conflicting classifications of pathogenicity
Health Risk
RS546358774
Conflicting classifications of pathogenicity
Autosomal recessive optic atrophy, OPA7 type, Autosomal recessive optic atrophy
Health Risk
RS1555208375
Likely pathogenic
Health Risk
RS2153313250
Likely pathogenic
Health Risk
RS121434508
Pathogenic
Autosomal recessive optic atrophy, OPA7 type, TMEM126A-related disorder
Health Risk
RS1343749498
Pathogenic
Health Risk
RS2082520628
Pathogenic
Health Risk
RS2547851268
Pathogenic
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS146573578 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive optic atrophy, OPA7 type, Autosomal recessive optic atrophy |
| RS36100288 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive optic atrophy, OPA7 type, TMEM126A-related disorder |
| RS369467944 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS546358774 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive optic atrophy, OPA7 type, Autosomal recessive optic atrophy |
| RS1555208375 | Health Risk | Likely pathogenic | — |
| RS2153313250 | Health Risk | Likely pathogenic | — |
| RS121434508 | Health Risk | Pathogenic | Autosomal recessive optic atrophy, OPA7 type, TMEM126A-related disorder |
| RS1343749498 | Health Risk | Pathogenic | — |
| RS2082520628 | Health Risk | Pathogenic | — |
| RS2547851268 | Health Risk | Pathogenic | — |