Rabbit C9orf72 Polyclonal Antibody | anti-C9orf72 antibody

C9orf72 Polyclonal Antibody

Cat. Num. AAA3005588

• Gene Names: C9orf72; ALSFTD; FTDALS; FTDALS1
• Reactivity: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse
• Applications: Flow Cytometry, Functional Assay
• Purity: affinity purified by Protein A
• Synonyms: C9orf72; Polyclonal Antibody; C9orf72 Polyclonal Antibody; chromosome 9 open reading frame 72; CI072_HUMAN; MGC23980; Uncharacterized protein C9orf72; anti-C9orf72 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse
• Clonality: Polyclonal
• Specificity: C9orf72 Polyclonal Antibody detects endogenous levels of C9orf72 protein.
• Purity/Purification: affinity purified by Protein A
• Form/Format: 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

• Applicable Applications for anti-C9orf72 antibody: Flow Cytometry (FC/FACS/FCM)
• Application Notes: FC/FACS/FCM: 1ug/test
• Immunogen: KLH conjugated synthetic peptide derived from human C9orf72:391-481/481
• Preparation and Storage: Store at 4 degree C short term. Aliquot and store at -20 degree C long term. Avoid freeze-thaw cycles.

Related Product Information for anti-C9orf72 antibody

Chromosome 9 consists of about 145 million bases and 4% of the human genome and encodes nearly 900 genes. Considered to play a role in gender determination, deletion of the distal portion of 9p can lead to development of male to female sex reversal, the phenotype of a female with a male X,Y genotype. Hereditary hemorrhagic telangiectasia, which is characterized by harmful vascular defects, is associated with the chromosome 9 gene encoding endoglin protein, ENG. Familial dysautonomia is also associated with chromosome 9 though through the gene IKBKAP. Notably, chromosome 9 encompasses the largest interferon family gene cluster. Chromosome 9 is partnered with chromosome 22 in the translocation leading to the aberrant production of BCR-ABL fusion protein often found in leukemias. The C9orf72 gene product has been provisionally designated C9orf72 pending further characterization. There are two isoforms of C9orf72 that are produced as a result of alternative splicing events.

NCBI and Uniprot Product Information

• NCBI GI #: 37039612
• NCBI GeneID: 203228
• NCBI Accession #: NP_060795
• NCBI GenBank Nucleotide #: NM_018325.4
• UniProt Accession #: Q96LT7; Q6NUS9; A8K5W0; D3DRK6; G8I0B6
• Molecular Weight: Predicted: 53 kDa; Observed: 52 kDa
• NCBI Official Full Name: protein C9orf72 isoform a
• NCBI Official Synonym Full Names: chromosome 9 open reading frame 72
• NCBI Official Symbol: C9orf72
• NCBI Official Synonym Symbols: ALSFTD; FTDALS; FTDALS1
• NCBI Protein Information: protein C9orf72
• UniProt Protein Name: Protein C9orf72
• Protein Family: Protein
• UniProt Gene Name: C9orf72
• UniProt Entry Name: CI072_HUMAN

NCBI Description

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]

Uniprot Description

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