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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. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 9p21.2
Cellular Component: autophagic vacuole; cytoplasm; endosome; extracellular space; lysosome; nucleus
Molecular Function: protein binding; Rab GTPase binding; Rab guanyl-nucleotide exchange factor activity
Biological Process: autophagy; endocytosis; positive regulation of GTPase activity; positive regulation of macroautophagy; regulation of autophagy
Disease: Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 1
Reference #:  Q96LT7 (UniProtKB)
Alt. Names/Synonyms: C9orf72; chromosome 9 open reading frame 72; CI072; hypothetical protein LOC203228; MGC23980; RP11-27J8.2; Uncharacterized protein C9orf72
Gene Symbols: C9orf72
Molecular weight: 54,328 Da
Basal Isoelectric point: 5.82  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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