ALSFTD Antibody – Rabbit Polyclonal

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 hexanucleotide repeat in non-coding 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, Feb 2015]

C9orf72: Defects in C9orf72 are the cause of frontotemporal dementia and/or amyotrophic lateral sclerosis (FTDALS). An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. Caused by a large expansion of a GGGGCC hexanucleotide within the first C9orf72 intron located between the first and the second non-coding exons. The expansion leads to the loss of transcription of one of the two transcripts encoding isoform 1 and to the formation of nuclear RNA foci. 2 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 9p21.2

Cellular Component: actin cytoskeleton; autophagic vacuole; cytoplasm; cytoplasmic vesicle; endosome; extracellular space; intercellular bridge; lysosome; nucleoplasm; nucleus

Molecular Function: protein binding; Rab GTPase binding

Biological Process: autophagy; endocytosis

Disease: Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1