anticorps CZH9orf72, anticorps ALSFTD, anticorps FTDALS, anticorps AI840585, anticorps c9orf72, anticorps chromosome Z C9orf72 homolog, anticorps chromosome 9 open reading frame 72, anticorps RIKEN cDNA 3110043O21 gene, anticorps similar to RIKEN cDNA 3110043O21, anticorps chromosome 9 open reading frame 72 L homeolog, anticorps CZH9orf72, anticorps C9orf72, anticorps 3110043O21Rik, anticorps RGD1359108, anticorps c9orf72.L
Sujet
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.,C9orf72,ALSFTD,DENNL72,FTDALS,FTDALS1,Epigenetics & Nuclear Signaling,Transcription Factors,Neuroscience,Neurodegenerative Diseases,Neurodegenerative Diseases Markers,Other Neurological disorders,Amyotrophic lateral sclerosis-ALS,C9orf72