Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient.,Molecular Genetics & Genomic Medicine

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Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-05-15 , DOI: 10.1002/mgg3.1258
Maram Arafat _{1,

2} , Atif Zeadna _{3,

4} , Eliahu Levitas _{3,

4} , Iris Har Vardi _{3,

4} , Benzion Samueli ₅ , Ruth Shaco-Levy ₅ , Salam Dabsan _{1,

2} , Eitan Lunenfeld _{3,

4} , Mahmoud Huleihel _{1,

4} , Ruti Parvari _{1,

2}

Affiliation

Ubiquitin‐Specific Peptidase 26 (USP26 ), located on the X chromosome, encodes a deubiquitinating enzyme expressed mainly in testis, where it regulates protein turnover during spermatogenesis and modulates the ubiquitination levels of the Androgen Receptor (AR), and as a consequence, affects AR signaling.

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