C9orf72

C9orf72
Identifiers
Aliases	C9orf72, chromosome 9 open reading frame 72, ALSFTD, FTDALS, FTDALS1, DENNL72, C9orf72-SMCR8 complex subunit, DENND9
External IDs	OMIM: 614260 MGI: 1920455 HomoloGene: 10137 GeneCards: C9orf72
Gene location (Human)
Chr.	Chromosome 9 (human)
End	27,573,866 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	35,226,175 bp
RNA expression pattern
	Top expressed in
	monocyte; ; bronchial epithelial cell; ; cerebellar vermis; ; right lung; ; right uterine tube; ; cerebellar hemisphere; ; Brodmann area 23; ; blood; ; Achilles tendon; ; superior vestibular nucleus;
	Top expressed in
	facial motor nucleus; ; white adipose tissue; ; subcutaneous adipose tissue; ; olfactory epithelium; ; atrioventricular valve; ; spinal ganglia; ; anterior horn of spinal cord; ; pontine nuclei; ; atrium; ; spermatocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding; guanyl-nucleotide exchange factor activity;
Cellular component	autophagosome; extracellular region; endosome; lysosome; cytoplasmic vesicle; nucleus; extracellular space; guanyl-nucleotide exchange factor complex; cytoplasm; Atg1/ULK1 kinase complex; axonal growth cone; main axon; P-body; membrane; axon; dendrite; growth cone; nuclear membrane; cell projection; perikaryon; cytoplasmic stress granule; neuron projection;
Biological process	endocytosis; positive regulation of macroautophagy; regulation of autophagy; regulation of TORC1 signaling; autophagy; negative regulation of protein phosphorylation; stress granule assembly; axon extension; regulation of actin filament organization; late endosome to lysosome transport; regulation of autophagosome assembly; negative regulation of GTP binding;
	Sources:Amigo / QuickGO
Orthologs
	203228
	73205
	ENSG00000147894
	ENSMUSG00000028300
	Q96LT7
	Q6DFW0
	NM_145005; NM_001256054; NM_018325
	NM_001081343; NM_028466
	NP_001242983; NP_060795; NP_659442
	NP_001074812; NP_082742
	Wikidata
View/Edit Human	View/Edit Mouse

C9orf72 (chromosome 9 open reading frame 72) is a protein which in humans is encoded by the gene C9orf72.

The human C9orf72 gene is located on the short (p) arm of chromosome 9 open reading frame 72, from base pair 27,546,546 to base pair 27,573,866 (GRCh38). Its cytogenetic location is at 9p21.2.

The protein is found in many regions of the brain, in the cytoplasm of neurons as well as in presynaptic terminals. Disease-causing mutations in the gene were first discovered by two independent research teams, led by Rosa Rademakers of Mayo Clinic and Bryan Traynor of the National Institutes of Health, and were first reported in October 2011. The mutations in C9orf72 are significant because it is the first pathogenic mechanism identified to be a genetic link between familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). It is the most common mutation identified that is associated with familial FTD and/or ALS in Caucasians.

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