蛋白质/抗原/多肽 >> 重组蛋白
重组9号染色体开放阅读框61蛋白
半岛bd体育手机客户端 介绍
基因名:
ENTREP1 半岛bd体育手机客户端 别名: C9orf61; ENTREP; FAM189A2; X123; ENTREP1; endosomal transmembrane epsin interactor 1; endosomal transmembrane epsin interactor 1; protein FAM189A2; Friedreich ataxia region gene X123; endosomal transmembrane binding with epsin; family with sequence similarity 189 member A2; 9号染色体开放阅读框61; 背景信息:
Friedreich's ataxia is an inherited disease that is characterized by a progressive degeneration of the spinal cord and nerve tissue. Caused by a mutated gene region on chromosome 9 that results in mitochondrial malfunction, Friedreich's ataxia can lead to a variety of conditions including speech problems, vision impairment, muscle weakness, diabetes and scoliosis. X123, also known as C9orf61 (chromosome 9 open reading frame 61), is a 289 amino acid protein that is expressed at high levels in skeletal muscle and at lower levels in brain, heart and lung. The gene encoding X123 is located within the Friedreich's ataxia region on chromosome 9, suggesting a possible role for X123 in the pathogenesis of this disease.
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