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重组钙调素调节蛋白相关蛋白
半岛bd体育手机客户端 介绍
基因名:
CAMSAP1 半岛bd体育手机客户端 别名: CAMSAP1; calmodulin regulated spectrin associated protein 1; calmodulin regulated spectrin associated protein 1; calmodulin-regulated spectrin-associated protein 1; epididymis secretory sperm binding protein; 钙调素调节蛋白相关蛋白; 背景信息:
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.
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