Identity
HGNC
LOCATION
9q33.3
LOCUSID
ALIAS
CMT2P,RIFLE,TAL
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: 90678
MIM: 610933
HGNC: 25135
Ensembl: ENSG00000148356
Variants:
dbSNP: 90678
ClinVar: 90678
TCGA: ENSG00000148356
COSMIC: LRSAM1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38330802 | 2024 | A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P. | 0 |
| 38330802 | 2024 | A novel mutation in the LRSAM1 gene in a family with early onset autosomal dominant Charcot-Marie-Tooth type 2P. | 0 |
| 35842440 | 2022 | C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model. | 1 |
| 35922214 | 2022 | [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]. | 0 |
| 35842440 | 2022 | C698R mutation in Lrsam1 gene impairs nerve regeneration in a CMT2P mouse model. | 1 |
| 35922214 | 2022 | [Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]. | 0 |
| 33207262 | 2021 | LRSAM1 E3 ubiquitin ligase promotes proteasomal clearance of E6-AP protein. | 1 |
| 33414056 | 2021 | Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P. | 1 |
| 33207262 | 2021 | LRSAM1 E3 ubiquitin ligase promotes proteasomal clearance of E6-AP protein. | 1 |
| 33414056 | 2021 | Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P. | 1 |
| 31852984 | 2020 | Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | 4 |
| 31982566 | 2020 | Ubiquitin ligase LRSAM1 suppresses neurodegenerative diseases linked aberrant proteins induced cell death. | 1 |
| 31852984 | 2020 | Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease. | 4 |
| 31982566 | 2020 | Ubiquitin ligase LRSAM1 suppresses neurodegenerative diseases linked aberrant proteins induced cell death. | 1 |
| 30826859 | 2019 | LRSAM1 E3 ubiquitin ligase: molecular neurobiological perspectives linked with brain diseases. | 5 |
Citation
Dessen P
LRSAM1 (leucine rich repeat and sterile alpha motif containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/68675/lrsam1-(leucine-rich-repeat-and-sterile-alpha-motif-containing-1)
