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.
Similarity:
Contains 1 IQ domain.
SWISS:
Q4KMZ1
Gene ID:
55721
Database links:
Entrez Gene: 55721 Human
Entrez Gene: 230767 Mouse
SwissProt: Q4KMZ1 Human
SwissProt: A2ADZ8 Mouse
Unigene: 274356 Human
Unigene: 441132 Mouse
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Sample:
Kidney (Mouse) Lysate at 40 ug
Primary: Anti- IQCC (SL9019R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 53 kD
Observed band size: 55 kD
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