C9orf72 C9orf72-SMCR8 complex subunit
Gene ID: 203228, updated on 7-Apr-2024Gene type: protein coding
Also known as: ALSFTD; DENND9; FTDALS; DENNL72; FTDALS1
- See all available tests in GTR for this gene
- Go to complete Gene record for C9orf72
- Go to Variation Viewer for C9orf72 variants
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. [provided by RefSeq, Jul 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. GeneReviews: Not available | |
| Amyotrophic lateral sclerosis MedGen: C0002736GeneReviews: Amyotrophic Lateral Sclerosis Overview | See labs |
| Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. GeneReviews: Not available | |
| Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. GeneReviews: Not available | |
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | See labs |
| Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. GeneReviews: Not available | |
| Genome-wide association study identifies genetic determinants of urine PCA3 levels in men. GeneReviews: Not available |
Genomic context
- Location:
- 9p21.2
- Sequence:
- Chromosome: 9; NC_000009.12 (27546546..27573866, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for C9orf72 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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