MTX1 Gene - Metaxin 1
Mitochondrial import and assembly protein MTX1
Gene Information Card
| Symbol | MTX1 |
|---|---|
| Full Name | Metaxin 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q22 |
| NCBI Gene ID | 4580 ncbi.nlm.nih.gov/gene/4580 |
| Ensembl ID | ENSG00000143157 |
| UniProt ID | Q13505 |
| OMIM ID | 602125 |
| HGNC ID | 7502 |
| Aliases | MTX, MTXN, metaxin |
Description
MTX1 encodes metaxin 1, a component of the mitochondrial protein import complex. It is involved in the translocation of nuclear-encoded proteins into the mitochondrial matrix and is essential for mitochondrial biogenesis and function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease type 4A | MTX1 mutations disrupt mitochondrial import, leading to peripheral neuropathy | ClinVar, OMIM |
| Hereditary spastic paraplegia | Impaired mitochondrial protein transport due to MTX1 variants | ClinVar |
| Mitochondrial complex I deficiency | Defective import of complex I subunits via MTX1 dysfunction | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 10.2 | Medium |
| Brain | 8.7 | Low |
| Skeletal muscle | 15.3 | High |
| Kidney | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Medium expression |
| HepG2 | 13.2 | High expression |
| SH-SY5Y | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.283C>T (p.Arg95Trp) | Missense | 0.01% | Loss of mitochondrial import function |
| c.421G>A (p.Gly141Ser) | Missense | 0.005% | Reduced protein stability |
| c.556_558del (p.Lys186del) | Deletion | 0.002% | Impaired complex assembly |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants impair mitochondrial protein import, leading to organelle dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by disrupting the import complex.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial outer membrane translocase complex | • protein import into mitochondrial matrix |
| • mitochondrion organization | • protein transmembrane transporter activity |
| • mitochondrial membrane |
Pathways
• Mitochondrial protein import (Reactome: R-HSA-1268020)
• Mitochondrial biogenesis (KEGG: hsa04122)
Protein Summary
Metaxin 1 is a 317-amino acid protein localized to the mitochondrial outer membrane. It forms a complex with metaxin 2 and the translocase of the outer membrane (TOM) machinery to facilitate import of precursor proteins. Defects in MTX1 are associated with neurodegenerative disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTX1 Knockout HEK293 Cell Line | EDJ-KQ2963 | Human | 4580 | Details Get a Quote |
| MTX1 Knockout A-549 Cell Line | EDJ-KQ24114 | Human | 4580 | Details Get a Quote |
| MTX1 Knockout HCT 116 Cell Line | EDJ-KQ24115 | Human | 4580 | Details Get a Quote |
| MTX1 Knockout HeLa Cell Line | EDJ-KQ24116 | Human | 4580 | Details Get a Quote |
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