Ubiquitin Specific Peptidase 26 (USP26)

USP26 encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility.

USP26 is specifically expressed in testis tissue and is a potential infertility gene. In 8 of 111 patients (7.2%) with Sertoli cell-only syndrome, resulting in the insertion of a threonine residue between codon 123 and 124; a 494T-C transition resulting in a leu165-to-ser substitution (L165S); and a 1423C-T transition resulting in a his475-to-tyr substitution (H475Y). These changes were not found in 152 fertile controls or 32 patients with azoospermia with maturation arrest .