C2ORF47 Polyklonale Antilichaam

C2orf47, also known as FLJ22555 or DKFZp666A212, is a 291 amino acid mitochondrial protein that is encoded by a gene located on human chromosome 2q33.1. The second largest human chromosome, chromosome 2 consists of 237 million bases, encodes over 1,400 genes and makes up approximately 8% of the human genome. A number of genetic diseases are linked to genes on chromosome 2. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene. The lipid metabolic disorder sitosterolemia is associated with ABCG5 and ABCG8. An extremely rare recessive genetic disorder, Alstr syndrome is due to mutations in the ALMS1 gene. Interestingly, chromosome 2 contains what appears to be a vestigial second centromere and vestigial telomeres which gives credence to the hypothesis that human chromosome 2 is the result of an ancient fusion of two ancestral chromosomes seen in modern form today in apes.

Chromosome 2 open reading frame 47; Hhypothetical protein LOC79568

79568

Human, Mouse, Rat

201-291/291

C2ORF47

Unconjugated

KLH conjugated synthetic peptide derived from human C2ORF47

WB, IHC-P, IF (IHC-P)

Purified by Protein A.

1µg/µl

WB (1:300-5000), IHC-P (1:200-400), IF (IHC-P) (1:50-200)

0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.

Unmodified

Shipped at 4°C. Store at -20°C for one year. Avoid repeated freeze/thaw cycles.

79568