chromosome 9 open reading frame 72
E561105
Chromosome 9 open reading frame 72 (C9orf72) is a human gene best known for its hexanucleotide repeat expansions that are a major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Observed surface forms (1)
| Surface form | Occurrences |
|---|---|
| C9orf72 | 0 |
Statements (48)
| Predicate | Object |
|---|---|
| instanceOf |
disease-associated gene
ⓘ
human gene ⓘ |
| associatedWithBiologicalProcess |
autophagy
ⓘ
immune regulation ⓘ lysosomal homeostasis ⓘ vesicle trafficking ⓘ |
| associatedWithClinicalFeature |
behavioral changes
ⓘ
early-onset dementia ⓘ motor neuron degeneration ⓘ parkinsonism in some carriers ⓘ |
| associatedWithDisease |
ALS-FTD spectrum disorders
ⓘ
amyotrophic lateral sclerosis ⓘ frontotemporal dementia ⓘ |
| associatedWithPathology |
RNA foci
ⓘ
TDP-43 proteinopathy ⓘ dipeptide repeat protein aggregates ⓘ |
| associatedWithPhenotype |
ALS with cognitive impairment
ⓘ
behavioral variant frontotemporal dementia ⓘ familial ALS ⓘ familial frontotemporal dementia ⓘ sporadic ALS ⓘ |
| encodes | C9orf72 protein NERFINISHED ⓘ |
| expansionLocation |
non-coding region
ⓘ
promoter or first intron region ⓘ |
| expressedInTissue |
central nervous system
ⓘ
frontal cortex ⓘ motor neurons ⓘ |
| fullName | chromosome 9 open reading frame 72 NERFINISHED ⓘ |
| geneticTestingUse |
diagnosis of familial ALS
ⓘ
diagnosis of familial frontotemporal dementia ⓘ |
| inheritancePattern | autosomal dominant ⓘ |
| locatedOnChromosome | chromosome 9 ⓘ |
| molecularConsequence |
haploinsufficiency
ⓘ
toxic RNA gain-of-function ⓘ toxic dipeptide repeat protein gain-of-function ⓘ |
| mutationTypeInDisease | hexanucleotide repeat expansion ⓘ |
| normalAlleleFeature | short G4C2 repeat length ⓘ |
| pathogenicVariantType | large hexanucleotide repeat expansion ⓘ |
| proteinComplexAssociation | SMCR8-C9orf72-WDR41 complex NERFINISHED ⓘ |
| proteinFunction |
endosomal-lysosomal pathway regulation
ⓘ
regulation of autophagy ⓘ regulation of membrane trafficking ⓘ |
| repeatExpansionEffect |
aberrant RNA foci formation
ⓘ
production of dipeptide repeat proteins via RAN translation ⓘ reduced C9orf72 transcript levels ⓘ |
| repeatMotif |
G4C2
ⓘ
GGGGCC ⓘ |
| symbol | C9orf72 NERFINISHED ⓘ |
Referenced by (1)
Full triples — surface form annotated when it differs from this entity's canonical label.