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Rabbit Anti-ZBTB40 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.
Function:
May be involved in transcriptional regulation.
Subcellular Location:
Nucleus.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
Similarity:
Belongs to the krueppel C2H2-type zinc-finger protein family.
Contains 1 BTB (POZ) domain.
Contains 12 C2H2-type zinc fingers.
SWISS:
Q9NUA8
Gene ID:
9923
Database links:
Entrez Gene: 9923 Human
Omim: 612106 Human
SwissProt: Q9NUA8 Human
Unigene: 418966 Human
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