R171H missense mutation of INSL6 in a patient with spermatogenic failure.
作者： Guo-Wu Chen , Xiao Luo , Ya-Li Liu , Qian Jiang , Xian-Ming Qian
DOI: 10.1016/J.EJMG.2011.04.008
关键词:
摘要: Insulin-like peptide 6 (INSL6) is a newly identified insulin/relaxin family hormone that predominantly expressed by the male germ cells in testes. A recent murine study demonstrated INSL6-knockout results spermatogenic failure. In present study, human INSL6 gene was screened for mutations may contribute to Of 249 patients and healthy control subjects, heterozygous R171H missense mutation found one patient. The probably disturbed vivo processing of prohormone because it located at absolutely conserved tetrabasic cleavage site between C-peptide A-chain, therefore might be responsible
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