C9orf72
Sign in to saveAlso known as chromosome 9 open reading frame 72, ALSFTD, FTDALS, FTDALS1, DENNL72, C9orf72-SMCR8 complex subunit, DENND9
C9orf72 (chromosome 9 open reading frame 72) is a protein which in humans is encoded by the gene C9orf72.
Gene data
C9orf72- Name
- C9orf72-SMCR8 complex subunit
- Type
- protein-coding
- Position
- 27,535,640–27,573,895 (−)
- Aliases
- ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1
- Ensembl
- ENSG00000147894
- RefSeq RNA
- NM_001256054.3, NM_018325.5, NM_145005.7
- RefSeq protein
- NP_001242983.1, NP_060795.1, NP_659442.2
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
C9orf72-SMCR8 complex subunit
- Symbol
- C9orf72
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 9:27,535,640-27,573,895
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~12 min read
Encyclopedic overview
13 sectionsContents
- Evolutionary history
- Mutations
- Clinical significance
- Gene heritability
- Gene testing
- Likely function of C9ORF72 protein
- DNA damage response
- Primary cilium and hedgehog signaling
- Implications for future therapies
- Interactions
- See also
- References
- External links
C9orf72 (chromosome 9 open reading frame 72) is a protein which in humans is encoded by the gene C9orf72.
The human C9orf72 gene is located on the short (p) arm of chromosome 9 open reading frame 72, from base pair 27,546,546 to base pair 27,573,866 (GRCh38). Its cytogenetic location is at 9p21.2.
Excerpted from Wikipedia’s “C9orf72” article, available under the CC BY-SA 4.0 licence.