Lrsam1 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Leucine Rich Repeat And Sterile Alpha Motif 1 | |
|---|---|
| Gene Symbol | LRSAM1 |
| Full Name | Leucine Rich Repeat And Sterile Alpha Motif 1 |
| Chromosome | 9q33.3 |
| NCBI Gene ID | 90661 |
| OMIM | 610933 |
| Ensembl ID | ENSG00000148450 |
| UniProt ID | Q6UWP7 |
| Associated Diseases | Charcot-Marie-Tooth Disease, Amyotrophic Lateral Sclerosis |
LRSAM1 is a gene/protein encoding a key neuronal protein involved in synaptic function, signal transduction, and cellular homeostasis. Dysfunction of LRSAM1 is associated with neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and related disorders.
LRSAM1 encodes an E3 ubiquitin ligase:
LRSAM1 is expressed in:
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| CMT2 | T408I | Autosomal dominant | Impaired ubiquitination |
| ALS | Missense | Autosomal dominant | Protein quality control |
The study of Lrsam1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.