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[精子发生功能障碍中USP26基因的突变]

[Mutation of the USP26 gene in spermatogenesis dysfunction].

作者信息

Wei Li, Shi Yi-Chao, Cui Ying-Xia, Huang Yu-Feng

机构信息

PLA Research Institute of Clinical Laboratory Medicine, Nanjing General Hospital of Nanjing Military Region, Nanjing, Jiangsu 210002, China.

出版信息

Zhonghua Nan Ke Xue. 2010 Jan;16(1):65-7.

Abstract

The ubiquitin specific protease 26 (USP26) gene is located at Xq26.2 and present as a single exon on the X chromosome encoding for a protein of 913 amino acids. It belongs to a large family of deubiquitinating enzymes, and is exclusively expressed in the testis. There are conflicting reports on whether mutations in USP26 are associated with male infertility. This article updates the researches on the USP26 gene, its complicated relationship with male spermatogenesis dysfunction, the role of its mutation in male infertility, its geographical or ethnic distribution, and its evolution.

摘要

泛素特异性蛋白酶26(USP26)基因位于Xq26.2,在X染色体上呈单外显子形式,编码一种含913个氨基酸的蛋白质。它属于去泛素化酶的一个大家族,且仅在睾丸中表达。关于USP26突变是否与男性不育相关,存在相互矛盾的报道。本文更新了关于USP26基因的研究,其与男性精子发生功能障碍的复杂关系,其突变在男性不育中的作用,其地理或种族分布以及其进化情况。

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