Gene: LOC112268043

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Gene: C9orf72

Alternate names for this Gene: ALSFTD|DENND9|DENNL72|FTDALS|FTDALS1

Gene Summary: The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 9

Location in Chromosome : 9p21.2

Description of this Gene: C9orf72-SMCR8 complex subunit

Type of Gene: protein-coding

Gene: LOC107987057

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rs2814707 in LOC112268043;C9orf72;LOC107987057 gene and Amyotrophic Lateral Sclerosis PMID 19734901 2009 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

PMID 23587638 2013 Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.

PMID 20801718 2010 Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.

rs2814707 in LOC112268043;C9orf72;LOC107987057 gene and Prion Diseases PMID 22210626 2012 Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.