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Rabbit Anti-C1orf183 antibody
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 C1orf183 gene product has been provisionally designated C1orf183 pending further characterization. There are two isoforms of C1orf183 that are produced as a result of alternative splicing events.
Similarity:
Belongs to the FAM212 family.
SWISS:
Q9NTI7
Gene ID:
55924
Database links:
Entrez Gene: 55924 Human
SwissProt: Q9NTI7 Human
Unigene: 193406 Human
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