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: 23363
MIM: 610991
HGNC: 29092
Ensembl: ENSG00000124006
Variants:
dbSNP: 23363
ClinVar: 23363
TCGA: ENSG00000124006
COSMIC: OBSL1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33135300 | 2021 | Three M syndrome 2 in two Indian patients. | 1 |
| 33258289 | 2021 | A rare cause of syndromic short stature: 3M syndrome in three families. | 4 |
| 34597859 | 2021 | Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants. | 2 |
| 33135300 | 2021 | Three M syndrome 2 in two Indian patients. | 1 |
| 33258289 | 2021 | A rare cause of syndromic short stature: 3M syndrome in three families. | 4 |
| 34597859 | 2021 | Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants. | 2 |
| 30980518 | 2019 | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 8 |
| 30980518 | 2019 | Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. | 8 |
| 27796265 | 2017 | A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene. | 6 |
| 27989621 | 2017 | Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection. | 20 |
| 27796265 | 2017 | A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene. | 6 |
| 27989621 | 2017 | Binding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection. | 20 |
| 27654294 | 2016 | The Cytoskeletal Adaptor Obscurin-Like 1 Interacts with the Human Papillomavirus 16 (HPV16) Capsid Protein L2 and Is Required for HPV16 Endocytosis. | 23 |
| 27654294 | 2016 | The Cytoskeletal Adaptor Obscurin-Like 1 Interacts with the Human Papillomavirus 16 (HPV16) Capsid Protein L2 and Is Required for HPV16 Endocytosis. | 23 |
| 24711643 | 2014 | Identifying biological pathways that underlie primordial short stature using network analysis. | 20 |
Citation
Dessen P
OBSL1 (obscurin like cytoskeletal adaptor 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71088/gene-fusions/teaching-explorer/
