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C9orf72 chromosome 9 open reading frame 72 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001256054 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_018325 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_145005 Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $399.00 14
XM_006716739 PREDICTED: Homo sapiens chromosome 9 open reading frame 72 (C9orf72), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Related Services

Gene Symbol C9orf72
Entrez Gene ID 203228
Full Name chromosome 9 open reading frame 72
Synonyms ALSFTD, FTDALS
General protein information
Preferred Names
protein C9orf72
Names
protein C9orf72
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9p21.2

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].
Disorder

MIM: 614260

mRNA Protein Product Sequence Price Select
NM_001256054, 365906243 NP_001242983, 365906244 protein C9orf72 isoform a ORF Sequence $360.00
NM_018325, 365906242 NP_060795, 37039612 protein C9orf72 isoform a ORF Sequence $360.00
NM_145005, 365906241 NP_659442, 24475849 protein C9orf72 isoform b ORF Sequence $250.00
XM_006716739, 578816421 XP_006716802, 578816422 protein C9orf72 isoform X1 ORF Sequence $550.00
Homo sapiens (human)C9orf72NP_001242983.1
Pan troglodytes (chimpanzee)C9H9orf72XP_003951454.1
Macaca mulatta (Rhesus monkey)C15H9orf72XP_002800118.1
Canis lupus familiaris (dog)C11H9orf72XP_005626755.1
Bos taurus (cattle)C8H9orf72NP_001096558.1
Mus musculus (house mouse)3110043O21RikNP_001074812.1
Rattus norvegicus (Norway rat)RGD1359108NP_001007703.1
Gallus gallus (chicken)C9ORF72XP_424945.2
Danio rerio (zebrafish)zgc:100846NP_991166.1
Process
IDNameEvidence
GO:0006897endocytosisIMP
GO:0006914autophagyIMP
GO:0008219cell deathIEA
Component
IDNameEvidence
GO:0005615extracellular spaceIDA
GO:0005634nucleusIDA
GO:0005764lysosomeIDA
GO:0005768endosomeIDA
GO:0005776autophagic vacuoleIDA
GO:0031410cytoplasmic vesicleIEA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0017137Rab GTPase bindingIDA
GeneCards C9orf72
UniProt Q9NUW0, Q96LT7
Vega OTTHUMG00000019716
MIM 614260
Ensembl ENSG00000147894
HGNC 28337
HPRD 12975

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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