Product Name: C2orf50 Polyclonal Antibody, Biotin Conjugated
Applications: WB, IHC-P
Reactivity: Human
Conjugation: Biotin
Host: Rabbit
Sourcr: KLH conjugated synthetic peptide derived from human C2orf50
Clonality: Polyclonal
CAS NO: 371242-69-2
Product: ML-7 (hydrochloride)
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: C2orf50; CB050_HUMAN; Chromosome 2 open reading frame 50; FLJ25143; Hypothetical protein LOC130813; MGC149401; Uncharacterized protein C2orf50.
Background: C2orf50 (chromosome 2 open reading frame 50), also known as FLJ25143 or MGC149401, is a 162 amino acid protein that is encoded by a gene located on human chromosome 2p25.1. 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, 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/272/3/1082
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