SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)
2013-05-01 AffiliationIdentity
HGNC
LOCATION
18p11.32
LOCUSID
ALIAS
BAMS,FSHD2
FUSION GENES
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: 23347
MIM: 614982
HGNC: 29090
Ensembl: ENSG00000101596
Variants:
dbSNP: 23347
ClinVar: 23347
TCGA: ENSG00000101596
COSMIC: SMCHD1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38809976 | 2024 | DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis. | 0 |
| 38809976 | 2024 | DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis. | 0 |
| 36800423 | 2023 | DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose. | 4 |
| 36944600 | 2023 | Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant. | 0 |
| 37334829 | 2023 | In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype. | 0 |
| 37380887 | 2023 | SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action. | 0 |
| 36800423 | 2023 | DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose. | 4 |
| 36944600 | 2023 | Nasal Construction in Congenital Arhinia Due to Novel SMCHD1 Gene Variant. | 0 |
| 37334829 | 2023 | In skeletal muscle and neural crest cells, SMCHD1 regulates biological pathways relevant for Bosma syndrome and facioscapulohumeral dystrophy phenotype. | 0 |
| 37380887 | 2023 | SMCHD1 and LRIF1 converge at the FSHD-associated D4Z4 repeat and LRIF1 promoter yet display different modes of action. | 0 |
| 35121673 | 2022 | Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. | 1 |
| 35121673 | 2022 | Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. | 1 |
| 34109974 | 2021 | SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization. | 1 |
| 34845997 | 2021 | A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2. | 1 |
| 34880314 | 2021 | A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression. | 2 |
Citation
Dessen P
SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2013-05-01
Online version: http://atlasgeneticsoncology.org/gene/53305/smchd1-(structural-maintenance-of-chromosomes-flexible-hinge-domain-containing-1)
