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FLASH GENE

Symbol

C9orf72

contributors: mct - updated : 07-05-2024

HGNC name	C9orf72-SMCR8 complex subunit
HGNC id	28337

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ALSFTD1

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       expansion of a non-coding GGGGCC hexanucleotide repeat in the C9ORF72 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis constitutional   amplification     in frontotemporal lobar degeneration, with anxiety, agitation and memory impairment and frequent motor neuron disease, with extensive thinning of frontal, temporal and parietal cortices, subcortical grey matter atrophy including thalamus and cerebellum and involvement of long intrahemispheric, commissural and corticospinal tracts constitutional     --low   by high methylation level was significantly associated with familial ALS constitutional       loss of function leads to autoimmunity constitutional       loss of function promotes a change in the homeostatic signature in microglia and a transition to an inflammatory state characterized by an enhanced type I IFN signature and altered microglial function due to decreased C9orf72 expression directly contributes to neurodegeneration in repeat expansion carriers independent of gain-of-function toxicities

Susceptibility

to Frontotemporal Lobar Degeneration (FTLD)

Variant & Polymorphism repeat	repeat expansion in C9ORF72 is a common cause of FTLD and often presents with late-onset psychosis or memory impairment

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

C9orf72 null mice developed progressive splenomegaly and lymphadenopathy with accumulation of engorged macrophage-like cells