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重组NIPA样蛋白3
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介绍 基因名: NIPAL3 半岛bd体育手机客户端 别名: DJ462O23.2; NPAL3; SLC57A5; NIPAL3; NIPA like domain containing 3; NIPA like domain containing 3; NIPA-like protein 3; NIPA样蛋白3; 背景信息: NIPAL3 is a 406 amino acid multi-pass membrane protein that belongs to the NIPA family and exists as three alternatively spliced isoforms. The gene that encodes NPAL3 consists of approximately 57,229 bases and maps to human chromosome 1p36. 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 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. 标签:His-tag |
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