Application:IF
Reactivity: (predicted: Human,Mouse,Rat,Rabbit,Pig,Cow)
Kelch domain-containing protein 8A (KLHDC8A) is a 350 amino acid protein. KLHDC8A contains seven kelch repeats, each of which is an approximately 50 amino acid long conserved region that forms a tertiary structure beta-propeller. The gene that encodes KLHDC8A is located on chromosome 1, which 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. 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. Aberrations in chromosome 1 are found in a variety of cancers including head and neck cancer, malignant melanoma and multiple myeloma.