该基因编码一个蛋白质结构域,该结构域与肽酶家族C19(也称为泛素羧基末端水解酶家族2)相关联家族成员作为脱双歧酶,识别和水解泛素c端甘氨酸的肽键。肽酶家族c19中的酶参与了多泛素前体和泛素化蛋白的加工。交替转录剪接变体,编码不同的亚型,已经被描述出来。[由RefSeq提供,2008年7月]
This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

基因名:USP48
别名:USP31,RAP1GA1
基因ID:84196
Chromosome:
(GRCh37)
1 Start: 22004791 End: 22109688 Strand: 
信号通路:  
USP48 基因突变与药物

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