Aliases for C9orf72 Gene
External Ids for C9orf72 Gene
Previous GeneCards Identifiers for C9orf72 Gene
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. [provided by RefSeq, Jul 2016]
GeneCards Summary for C9orf72 Gene
C9orf72 (Chromosome 9 Open Reading Frame 72) is a Protein Coding gene. Diseases associated with C9orf72 include Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 and Huntington Disease-Like Syndrome Due To C9orf72 Expansions. Among its related pathways are Mesodermal Commitment Pathway. GO annotations related to this gene include Rab GTPase binding.
UniProtKB/Swiss-Prot for C9orf72 Gene
May play a role in endosomal trafficking and autophagy.