Product Name: C9orf72 Polyclonal Antibody, ALEXA FLUOR® 647 Conjugated
Applications: IF(IHC-P)
Reactivity: Human, Mouse, Rat
Conjugation: ALEXA FLUOR® 647
Host: Rabbit
Sourcr: KLH conjugated synthetic peptide derived from human C9orf72
Clonality: Polyclonal
CAS NO: 80321-63-7
Product: beta-lactamase-IN-1
Isotype: IgG
Concentration: 1ug/ul
Purification: Purified by Protein A.
Storage: Aqueous buffered solution containing 1% BSA, 50% glycerol and 0.09% sodium azide. Store at 4°C for 12 months.
Synonyms: ALSFTD; FTDALS; Protein C9orf72; C9orf72
Background: 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.
PubMed ID:http://jpet.aspetjournals.org/content/287/1/381
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