C9orf72, C9orf72-SMCR8 complex subunit

C9orf72, C9orf72-SMCR8 complex subunit

• 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 Synonyms (guanine nucleotide exchange C9orf72, protein C9orf72, ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1,)
• NCBI Gene ID: 203228
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q96LT7
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

C9orf72-SMCR8 complex subunit interacts with:

• autophagy/beclin 1 regulator 1
  C9orf72-SMCR8 complex subunit
  RAB26, member RAS oncogene family
  senataxin
  Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)
  sorting nexin 8
  TAR DNA binding protein
  TBC1 domain family, member 22a
  tripartite motif containing 73
  WD repeat domain 41

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.