MTX3 Gene - Metaxin 3
Mitochondrial import factor and potential tumor suppressor
Gene Information Card
| Symbol | MTX3 |
|---|---|
| Full Name | Metaxin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q14.1 |
| NCBI Gene ID | 345778 ncbi.nlm.nih.gov/gene/345778 |
| Ensembl ID | ENSG00000164308 |
| UniProt ID | Q5HYI7 |
| OMIM ID | 616127 |
| HGNC ID | 25006 |
| Aliases | FLJ38973, MGC138290 |
Description
MTX3 (Metaxin 3) encodes a member of the metaxin family of mitochondrial import proteins. The protein is localized to the mitochondrial outer membrane and is involved in the import of proteins into mitochondria. MTX3 may play a role in mitochondrial dynamics and cellular stress responses. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression and mutations may affect mitochondrial function and apoptosis | COSMIC database reports somatic mutations in multiple cancer types |
| Mitochondrial disorders | Potential disruption of protein import leading to mitochondrial dysfunction | Inferred from function; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
| A549 | 5.9 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | 0.01% | Unknown functional impact |
| c.412C>T (p.Pro138Ser) | Missense | 0.005% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial outer membrane (GO:0005741) |
| • integral component of membrane (GO:0016021) | • protein import into mitochondrial outer membrane (GO:0045040) |
Pathways
• Mitochondrial protein import (Reactome: R-HSA-1268020)
Protein Summary
Metaxin-3 is a 317-amino acid protein with a transmembrane domain that anchors it to the mitochondrial outer membrane. It contains a GST-like domain and is thought to form a complex with other metaxins to facilitate protein translocation. The protein is ubiquitously expressed with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTX3 Knockout HEK293 Cell Line | EDJ-KQ189 | Human | 345778 | Details Get a Quote |
| MTX3 Knockout HeLa Cell Line | EDJ-KQ24070 | Human | 345778 | Details Get a Quote |
| MTX3 Knockout A-549 Cell Line | EDJ-KQ25445 | Human | 345778 | Details Get a Quote |
| MTX3 Knockout HCT 116 Cell Line | EDJ-KQ25446 | Human | 345778 | Details Get a Quote |
