POMP
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1314101
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资源简介：
The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]
该基因编码的蛋白质为一种分子伴侣，能结合20S前蛋白酶体组分，对于20S蛋白酶体的形成至关重要。20S蛋白酶体是26S蛋白酶体复合物中具有蛋白水解活性的组分。编码的蛋白质在20S蛋白酶体成熟完成之前即被降解。该基因5'非翻译区的一个变异体与KLICK综合征相关，KLICK综合征是一种罕见的皮肤疾病。[由RefSeq提供，2010年8月]
提供机构：
Rat Genome Database
