MTX2 Chromosome 2
Metaxin 2
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What This Gene Does
The protein encoded by this gene is highly similar to the metaxin 2 protein from mouse, which has been shown to interact with the mitochondrial membrane protein metaxin 1. Because of this similarity, it is thought that the encoded protein is peripherally associated with the cytosolic face of the outer mitochondrial membrane, and that it is involved in the import of proteins into the mitochondrion. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jun 2009]
Gene Info
Gene Group
Metaxins
Locus Type
gene with protein product
Location
2q31.1
Ensembl
ENSG00000128654
Associated Conditions (3)
Mandibuloacral dysplasia progeroid syndrome
Progeroid mandibuloacral dysplasia
10 conditions
Key Variants
RS936892236
Likely pathogenic
Mandibuloacral dysplasia progeroid syndrome, Mandibuloacral dysplasia progeroid syndrome
Health Risk
RS1392596720
Pathogenic
Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome, Progeroid mandibuloacral dysplasia
Health Risk
RS1575058847
Pathogenic
Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome, Progeroid mandibuloacral dysplasia
Health Risk
RS1575062905
Pathogenic
Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome, Progeroid mandibuloacral dysplasia
Health Risk
RS1575062987
Pathogenic
Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome, Progeroid mandibuloacral dysplasia
Health Risk
RS768727228
Pathogenic
10 conditions, Mandibuloacral dysplasia progeroid syndrome, 10 conditions
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS936892236 | Health Risk | Likely pathogenic | Mandibuloacral dysplasia progeroid syndrome, Mandibuloacral dysplasia progeroid syndrome |
| RS1392596720 | Health Risk | Pathogenic | Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome, Progeroid mandibuloacral dysplasia |
| RS1575058847 | Health Risk | Pathogenic | Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome, Progeroid mandibuloacral dysplasia |
| RS1575062905 | Health Risk | Pathogenic | Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome, Progeroid mandibuloacral dysplasia |
| RS1575062987 | Health Risk | Pathogenic | Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome, Progeroid mandibuloacral dysplasia |
| RS768727228 | Health Risk | Pathogenic | 10 conditions, Mandibuloacral dysplasia progeroid syndrome, 10 conditions |