Sequence in raw or FASTA format:
C9orf72 chromosome 9 open reading frame 72 [Homo sapiens (human)]
|Entrez Gene ID||203228|
|Full Name||chromosome 9 open reading frame 72|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].|
|Homo sapiens (human)||C9orf72||NP_001242983.1|
|Pan troglodytes (chimpanzee)||C9H9orf72||XP_003951454.1|
|Macaca mulatta (Rhesus monkey)||C15H9orf72||XP_002800118.1|
|Canis lupus familiaris (dog)||C11H9orf72||XP_005626755.1|
|Bos taurus (cattle)||C8H9orf72||NP_001096558.1|
|Mus musculus (house mouse)||3110043O21Rik||NP_001074812.1|
|Rattus norvegicus (Norway rat)||RGD1359108||NP_001007703.1|
|Gallus gallus (chicken)||C9ORF72||XP_424945.2|
|Danio rerio (zebrafish)||zgc:100846||NP_991166.1|
|GO:0017137||Rab GTPase binding||IDA|
What is the normal function of the C9orf72 gene?
The C9orf72 gene provides instructions for making a protein that is found in many tissues but whose function is unknown. Three different versions (isoforms) of the C9orf72 protein are produced from the C9orf72 gene. These isoforms are likely found in different tissues, but their purpose is unclear. The C9orf72 protein is produced in many regions of the brain. Within nerve cells (neurons), the protein is found in the fluid surrounding the nucleus (the cytoplasm). Additionally, the C9orf72 protein seems to be located in specialized structures called presynaptic terminals, found at the tips of neurons.
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