Background information
CAMSAP1L1 is a 1,489 amino acid protein that contains one calponin-homology domain and one CKK domain, which serves to bind microtubules. There are three isoforms of CAMSAP1L1 that are produced as a result of alternative splicing events. The gene encoding CAMSAP1L1 maps to human chromosome 1, 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.
