| Symbol
| ALS12
|
| Location
| 10p13
|
| Name
|
amyotrophic lateral sclerosis 12 |
| Corresponding gene
|
OPTN
|
| Main clinical features
|
onset from 30 to 60 years of age
relatively slow progression and long duration before respiratory failure, although the clinical phenotypes were not homogeneous |
| Genetic determination
| autosomal dominant |
|
| autosomal recessive |
| Function/system disorder
| neurology |
| Type
| disease
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| various types
|
| abnormal protein/loss of function
|
| |
| Remark(s)
|
OPTN suppresses nuclear factor-kappa B (NFKB) activity, but the ALS-causing mutant OPTN is unable to suppress NFKB activity (PMID: 23721573)) |