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重组16号染色体开放阅读框7蛋白
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介绍 基因名: VPS9D1 半岛bd体育手机客户端 别名: ATP-BL; ATPBL; C16orf7; VPS9D1; VPS9 domain containing 1; VPS9 domain containing 1; VPS9 domain-containing protein 1; 16号染色体开放阅读框7; 背景信息: Chromosome 16 encodes over 900 genes in approximately 90 million base pairs, makes up nearly 3% of human cellular DNA and is associated with a variety of genetic disorders. The GAN gene is located on chromosome 16 and, with mutation, may lead to giant axonal neuropathy, a nervous system disorder characterized by increasing malfunction with growth. The rare disorder Rubinstein-Taybi syndrome is also associated with chromosome 16, though through the CREBBP gene which encodes a critical CREB binding protein. Signs of Rubinstein-Taybi include mental retardation and predisposition to tumor growth and white blood cell neoplasias. Crohn's disease is a gastrointestinal inflammatory condition associated with chromosome 16 through the NOD2 gene. An association with systemic lupus erythematosis and a number of other autoimmune disorders with the pericentromeric region of chromosome 16 has led to the identification of SLC5A11 as a potential autoimmune modifier. 标签:His-tag |
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