TMEM126A
Transmembrane Protein 126A
Gene Information Card
| Symbol | TMEM126A |
|---|---|
| Full Name | Transmembrane Protein 126A |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q14.1 |
| NCBI Gene ID | 84233 ncbi.nlm.nih.gov/gene/84233 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9H061 |
| OMIM ID | 612988 |
| HGNC ID | 25438 |
| Aliases | OPA7, HSPC249, C11orf10 |
Description
TMEM126A encodes a transmembrane protein localized to the inner mitochondrial membrane, involved in cristae morphology and mitochondrial function. Mutations in this gene cause autosomal dominant optic atrophy type 7 (OPA7), characterized by progressive vision loss due to retinal ganglion cell degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Optic atrophy 7 (OPA7) | Loss-of-function mutations impair mitochondrial cristae organization, leading to retinal ganglion cell dysfunction and apoptosis. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 6.1 | Low |
| Skeletal Muscle | 5.4 | Low |
| Liver | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 10.2 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 7.8 | Low expression |
| HeLa (cervical carcinoma) | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.163C>T (p.Arg55*) | Nonsense | Rare | Premature stop, loss of protein function |
| c.278_279delAG (p.Glu93Valfs*2) | Frameshift | Rare | Truncated protein, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No translation initiation, complete loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent protein, impairing mitochondrial cristae integrity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Haploinsufficiency is the proposed mechanism; dominant-negative effects not established.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane | • mitochondrial cristae |
| • protein-containing complex | • integral component of membrane |
Pathways
• Mitochondrial cristae organization
• Oxidative phosphorylation (indirect)
Protein Summary
TMEM126A is a 189-amino-acid transmembrane protein embedded in the inner mitochondrial membrane. It is essential for proper cristae junction formation and mitochondrial network maintenance. Loss of function disrupts mitochondrial morphology and ATP production, particularly affecting high-energy-demand tissues such as the retina.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMEM126A Knockout HEK293 Cell Line | EDJ-KQ10019 | Human | 84233 | Details Get a Quote |
| TMEM126A Knockout A-549 Cell Line | EDJ-KQ37007 | Human | 84233 | Details Get a Quote |
| TMEM126A Knockout HCT 116 Cell Line | EDJ-KQ37008 | Human | 84233 | Details Get a Quote |
| TMEM126A Knockout HeLa Cell Line | EDJ-KQ35796 | Human | 84233 | Details Get a Quote |
