Full Name: C9orf72-SMCR8 complex subunit
BACKGROUND: 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).
Synonyms: Dipeptide repeats; Dprs; ALSFTD; FTDALS; DENNL72; FTDALS1
Research Areas: Cell Biology
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