Protein Name C9orf72-SMCR8 complex subunit
Organism Homo sapiens
Gene ID 203228
Gene Symbol

C9orf72

UniProt Q96LT7 (CI072_HUMAN)
Relationships Total Number of functionally related compound(s) : 125
Total Number of Articles : 671
Description

C9orf72-SMCR8 complex subunit

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. [provided by RefSeq, Jul 2016]

synonyms
  • guanine nucleotide exchange factor C9orf72
  • guanine nucleotide exchange C9orf72
  • protein C9orf72
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Properties