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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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TMEM126A
transmembrane protein 126A
Chromosome 11 Β· 11q14.1
NCBI Gene: 84233Ensembl: ENSG00000171202.8HGNC: HGNC:25382UniProt: Q9H061
54PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
optic nerve developmentprotein insertion into mitochondrial inner membrane from matrixmitochondrial respiratory chain complex I assemblymitochondrial protein quality controlautosomal recessive optic atrophy, OPA7 typeAutosomal recessive isolated optic atrophyoptic atrophymitochondrial disease
✦AI Summary

TMEM126A is a mitochondrial inner membrane protein that plays essential roles in mitochondrial complex I assembly and protein quality control. The protein functions as an assembly factor specifically required for the ND4 module of mitochondrial complex I 1. TMEM126A associates with newly synthesized polypeptides and acts as a chaperone that cooperates with OXA1L for the cotranslational insertion of mitochondrial proteins into the inner membrane 1. The protein localizes to the cristae of the inner mitochondrial membrane, where its mRNAs are enriched near mitochondria for local translation 2. TMEM126A mutations cause autosomal recessive optic atrophy (optic atrophy 7), a hereditary optic neuropathy affecting retinal ganglion cells 34. Loss of TMEM126A results in isolated complex I deficiency and mitochondrial dysfunction 1. Beyond its mitochondrial roles, TMEM126A has been implicated in cancer biology, where its loss promotes breast cancer metastasis through mitochondrial dysfunction-induced oxidative stress and epithelial-to-mesenchymal transition 5. The protein also functions in immune signaling by coupling with CD137L reverse signals in myeloid cells 6.

Sources cited
1
TMEM126A is an assembly factor for the ND4-module of complex I and acts as a chaperone for mitochondrial protein insertion
PMID: 33879611
2
TMEM126A localizes to cristae of inner mitochondrial membrane with mRNAs enriched near mitochondria
PMID: 23500070
3
TMEM126A mutations cause autosomal recessive optic atrophy
PMID: 30961538
4
TMEM126A is among the top 10 genes involved in hereditary optic neuropathies
PMID: 36317462
5
Loss of TMEM126A promotes breast cancer metastasis through mitochondrial dysfunction
PMID: 30393159
6
TMEM126A couples with CD137L reverse signals in myeloid cells
PMID: 22885069
Disease Associationsβ“˜21
autosomal recessive optic atrophy, OPA7 typeOpen Targets
0.71Strong
Autosomal recessive isolated optic atrophyOpen Targets
0.46Moderate
optic atrophyOpen Targets
0.44Moderate
mitochondrial diseaseOpen Targets
0.37Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.09Suggestive
cervical carcinomaOpen Targets
0.09Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
Okt4 epitope deficiencyOpen Targets
0.06Suggestive
Alymphoid cystic thymic dysgenesisOpen Targets
0.06Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.05Suggestive
22q11.2 deletion syndromeOpen Targets
0.05Suggestive
T-cell immunodeficiency, congenital alopecia, and nail dystrophyOpen Targets
0.04Suggestive
immunodeficiency 15aOpen Targets
0.04Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.04Suggestive
T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominantOpen Targets
0.04Suggestive
immunodeficiency 19Open Targets
0.04Suggestive
combined immunodeficiency due to partial RAG1 deficiencyOpen Targets
0.03Suggestive
Combined immunodeficiency T+ B+ due to partial RAG1 deficiencyOpen Targets
0.03Suggestive
Wiskott-Aldrich syndromeOpen Targets
0.03Suggestive
idiopathic CD4 lymphocytopeniaOpen Targets
0.03Suggestive
Optic atrophy 7 with or without auditory neuropathyUniProt
Pathogenic Variants10
NM_032273.4(TMEM126A):c.258del (p.Phe86fs)Pathogenic
Autosomal recessive optic atrophy, OPA7 type|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 86
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)Pathogenic
Autosomal recessive optic atrophy, OPA7 type|not provided|TMEM126A-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 55
NM_032273.4(TMEM126A):c.28del (p.Glu10fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 10
NM_032273.4(TMEM126A):c.151_154del (p.Asn51fs)Likely pathogenic
Autosomal recessive optic atrophy, OPA7 type
β˜…β˜†β˜†β˜†2025β†’ Residue 51
NM_032273.4(TMEM126A):c.351C>G (p.Tyr117Ter)Likely pathogenic
Optic atrophy
β˜…β˜†β˜†β˜†2024β†’ Residue 117
NM_032273.4(TMEM126A):c.258dup (p.Val87fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 87
NM_032273.4(TMEM126A):c.154dup (p.Ser52fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 52
NM_032273.4(TMEM126A):c.260dup (p.Ser88fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 88
NM_032273.4(TMEM126A):c.87-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2020
NM_032273.4(TMEM126A):c.86+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2017
View on ClinVar β†—
Related Genes
OPA3Protein interaction93%AASDHPPTProtein interaction83%TNFSF9Protein interaction73%RTN4IP1Protein interaction72%BCS1LShared pathway33%NDUFAF8Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
60%
Liver
54%
Brain
46%
Lung
31%
Ovary
31%
Gene Interaction Network
Click a node to explore
TMEM126AOPA3AASDHPPTTNFSF9RTN4IP1BCS1LNDUFAF8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H061
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.84LoF Tolerant
pLIβ“˜
0.26Tolerant
Observed/Expected LoF0.42 [0.23–0.84]
RankingsWhere TMEM126A stands among ~20K protein-coding genes
  • #8,380of 20,598
    Most Researched54
  • #2,870of 5,498
    Most Pathogenic Variants10
  • #7,216of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedTMEM126A
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
PMID: 36317462
Brain Β· 2023
1.00
2
Loss of TMEM126A promotes extracellular matrix remodeling, epithelial-to-mesenchymal transition, and breast cancer metastasis by regulating mitochondrial retrograde signaling.
PMID: 30393159
Cancer Lett Β· 2019
0.90
3
Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.
PMID: 33879611
Proc Natl Acad Sci U S A Β· 2021
0.80
4
Novel transmembrane protein 126A (TMEM126A) couples with CD137L reverse signals in myeloid cells.
PMID: 22885069
Cell Signal Β· 2012
0.70
5
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports.
PMID: 30961538
BMC Med Genet Β· 2019
0.60