Product Name: C2orf54 Polyclonal Antibody, Cy7 Conjugated
Applications: IF(IHC-P)
Reactivity: Human, Mouse, Rat
Conjugation: Cy7
Host: Rabbit
Sourcr: KLH conjugated synthetic peptide derived from human C2orf54
Clonality: Polyclonal
CAS NO: 912444-00-9
Product: ST 2825
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: C2orf54; CB054_HUMAN; Chromosome 2 open reading frame 54; Uncharacterized protein C2orf54.
Background: C2orf54 (chromosome 2 open reading frame 54), also known as FLJ22671, MGC150431 or MGC150432, is a 447 amino acid protein that exists as three alternatively spliced isoforms, which are encoded by a gene located on human chromosome 2q37.3. 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, Alstré°‰ 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.
PubMed ID:http://jpet.aspetjournals.org/content/272/3/1305
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