菜单 基因医生

该基因编码泛素特异性处理（ubp）蛋白酶家族的一个成员，该蛋白酶是一种具有his和cys结构域的二氢泛素化酶（dub）。该蛋白位于细胞质中，从泛素融合前体和泛素化蛋白中分离泛素部分。该蛋白特异性地在Fanconi贫血（FA）DNA修复途径中的一种蛋白质交替转录剪接变体已经被描述[由RefSeq提供，2008年7月]
This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]