CEP19
收藏rgd.mcw.edu2025-01-22 收录
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1602846
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资源简介：
The protein encoded by this gene localizes to centrosomes and primary cilia and co-localizes with a marker for the mother centriole. This gene resides in a region of human chromosome 3 that is linked to morbid obesity. A homozygous knockout of the orthologous gene in mouse resulted in mice with morbid obesity, hyperphagy, glucose intolerance, and insulin resistance. Mutations in this gene cause morbid obesity and spermatogenic failure (MOSPGF). This gene has a pseudogene on human chromosome 2. [provided by RefSeq, Apr 2014]
此基因编码的蛋白质定位于中心体和初级纤毛，并与母中心粒的标记共定位。该基因位于人类染色体3的一个区域，该区域与病态肥胖相关。小鼠同源基因的纯合敲除导致小鼠出现病态肥胖、过度摄食、葡萄糖耐受性降低和胰岛素抵抗。该基因的突变可引起病态肥胖和生精功能衰竭（MOSPGF）。该基因在人类染色体2上存在一个假基因。[由RefSeq提供，2014年4月]
提供机构：
Rat Genome Database
