蛋白质/抗原/多肽 >> 重组蛋白
重组SPG48蛋白
半岛bd体育手机客户端 介绍
基因名:
AP5Z1 半岛bd体育手机客户端 别名: KIAA0415; SPG48; zeta; AP5Z1; adaptor related protein complex 5 subunit zeta 1; adaptor related protein complex 5 subunit zeta 1; AP-5 complex subunit zeta-1; adapter-related protein complex 5 zeta subunit; adaptor related protein complex 5 zeta 1 subunit; adaptor-related protein complex 5 zeta subunit; zeta5; SPG48蛋白; 背景信息:
Chromosome 7 is about 158 milllion bases long, encodes over 1000 genes and makes up about 5% of the human genome. Chromosome 7 has been linked to Osteogenesis imperfecta, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. The deletion of a portion of the q arm of chromosome 7 is associated with Williams-Beuren syndrome, a condition characterized by mild mental retardation, an unusual comfort and friendliness with strangers and an elfin appearance. Deletions of portions of the q arm of chromosome 7 are also seen in a number of myeloid disorders including cases of acute myelogenous leukemia and myelodysplasia. KIAA0415 is a 807 amino acid protein that exists as three alternatively spliced isoforms. The KIAA0415 gene product has been provisionally designated KIAA0415 pending further characterization.
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