Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4534
MIM: 300415
HGNC: 7448
Ensembl: ENSG00000171100
Variants:
dbSNP: 4534
ClinVar: 4534
TCGA: ENSG00000171100
COSMIC: MTM1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000171100 | ENST00000370396 | Q13496 |
| ENSG00000171100 | ENST00000370396 | A0A024RC06 |
| ENSG00000171100 | ENST00000424519 | C9J2A2 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37139790 | 2023 | BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes. | 3 |
| 37139790 | 2023 | BIN1, Myotubularin, and Dynamin-2 Coordinate T-Tubule Growth in Cardiomyocytes. | 3 |
| 35177076 | 2022 | Circ_FURIN knockdown assuages Testosterone-induced human ovarian granulosa-like tumor cell disorders by sponging miR-423-5p to reduce MTM1 expression in polycystic ovary syndrome. | 6 |
| 35177076 | 2022 | Circ_FURIN knockdown assuages Testosterone-induced human ovarian granulosa-like tumor cell disorders by sponging miR-423-5p to reduce MTM1 expression in polycystic ovary syndrome. | 6 |
| 32805447 | 2020 | X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant. | 1 |
| 32805447 | 2020 | X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant. | 1 |
| 30884204 | 2019 | Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. | 3 |
| 31541013 | 2019 | Adult MTM1-related myopathy carriers: Classification based on deep phenotyping. | 9 |
| 30884204 | 2019 | Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. | 3 |
| 31541013 | 2019 | Adult MTM1-related myopathy carriers: Classification based on deep phenotyping. | 9 |
| 29358706 | 2018 | The MTM1-UBQLN2-HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle. | 29 |
| 30047259 | 2018 | Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. | 3 |
| 30232666 | 2018 | Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients. | 0 |
| 29358706 | 2018 | The MTM1-UBQLN2-HSP complex mediates degradation of misfolded intermediate filaments in skeletal muscle. | 29 |
| 30047259 | 2018 | Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants. | 3 |
Citation
Dessen P
MTM1 (myotubularin 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46298/mtm1
