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中文名称： CCDC181 抗原（重组蛋白）
英文名称：CCDC181 Antigen (Recombinant Protein)
别 名： coiled-coil domain containing 181; C1orf114
储 存： 冷冻（-20℃）
概 述
Fusion protein corresponding to a region derived from 173-372 amino acids of human CCDC181
技术规格
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Full name: |
coiled-coil domain containing 181 |
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Synonyms: |
C1orf114 |
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Swissprot: |
Q5TID7 |
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Gene Accession: |
BC026073 |
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Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
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Expression system: |
Escherichia coli |
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Tags: |
His tag C-Terminus, GST tag N-Terminus |
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Background: |
CCDC181, also known as C1orf114, chromosome 1 is the largest human chromosome spanning about 260 million base pairs and making up 8% of the human genome. There are about 3,000 genes on chromosome 1, and considering the great number of genes there are also a large number of diseases associated with chromosome 1. Notably, the rare aging disease Hutchinson-Gilford progeria is associated with the LMNA gene which encodes lamin A. When defective, the LMNA gene product can build up in the nucleus and cause characteristic nuclear blebs. The mechanism of rapidly enhanced aging is unclear and is a topic of continuing exploration. The MUTYH gene is located on chromosome 1 and is partially responsible for familial adenomatous polyposis. Stickler syndrome, Parkinsons, Gaucher disease and Usher syndrome are also associated with chromosome 1. A breakpoint has been identified in 1q which disrupts the DISC1 gene and is linked to schizophrenia. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma. The C1orf114 gene product has been provisionally designated C1orf114 pending further characterization. |
