C9ORF72
Chr 9ADC9orf72-SMCR8 complex subunit
Also known as: ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1
The C9ORF72 protein functions as a guanine nucleotide exchange factor for Rab GTPases and regulates autophagy, endosomal trafficking, and axon growth in motor neurons. Hexanucleotide repeat expansions in this gene cause frontotemporal dementia and amyotrophic lateral sclerosis, typically with adult onset. Inheritance is autosomal dominant.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C9ORF72 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
TRIAL READY (Clinical Trial Readiness)
ACTIVE NOT RECRUITINGDevelopment of Targeted RNA-Seq for Amyotrophic Lateral Sclerosis Diagnosis
RECRUITINGNeeds of ALS Patients With C9orf72 Mutation and Their Caregivers
RECRUITINGARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD)
RECRUITINGNeurofilament Surveillance Project (NSP)
ACTIVE NOT RECRUITINGSafety and Therapeutic Potential of the FDA-approved Drug Metformin for C9orf72 ALS/FTD
ACTIVE NOT RECRUITINGNeurofilament Light Chain And Voice Acoustic Analyses In Dementia Diagnosis
RECRUITINGAmyotrophic Lateral Sclerosis (ALS) Families Project
RECRUITINGThe Benefits of Long-read High-throughput Genomic Sequencing for the Causal Diagnosis of Cerebellar Ataxias
RECRUITINGA Study of PBFT02 in Participants With FTD and Mutations in the Granulin Precursor (GRN) or C9ORF72 Genes
RECRUITINGA Study of the Behavioral Variant of Frontotemporal Dementia and Bipolar Disorder: a Neuroimaging and Epigenetics Integrated Approach
RECRUITINGNeuroinflammation in FTLD
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools