CZH9orf72 antibody, ALSFTD antibody, FTDALS antibody, AI840585 antibody, c9orf72 antibody, chromosome Z C9orf72 homolog antibody, chromosome 9 open reading frame 72 antibody, RIKEN cDNA 3110043O21 gene antibody, similar to RIKEN cDNA 3110043O21 antibody, chromosome 9 open reading frame 72 L homeolog antibody, CZH9orf72 antibody, C9orf72 antibody, 3110043O21Rik antibody, RGD1359108 antibody, c9orf72.L antibody
背景
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