C9orf72 Polyklonale Antilichaam, Biotinevervoeging

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.

ALSFTD; FTDALS; Protein C9orf72; C9orf72

203228

Q96LT7

Cytoplasm, Nucleus

Human, Mouse, Rat

391-481/481

C9orf72

Biotin

KLH conjugated synthetic peptide derived from human C9orf72

WB, ELISA, IHC-P, IHC-F

Purified by Protein A.

1µg/µl

WB (1:300-5000), ELISA (1:500-1000), IHC-P (1:200-400), IHC-F (1:100-500)

Aqueous buffered solution containing 0.01M TBS (pH 7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Unmodified

Store at -20°C for 12 months.

203228