USP26 Chromosome X

Ubiquitin specific peptidase 26

4 variants 4 Health Risk

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What This Gene Does

This gene 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. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Ubiquitin specific peptidases

Locus Type

gene with protein product

Location

Xq26.2

Ensembl

ENSG00000134588

Associated Conditions (4)

Spermatogenic failure

X-linked

Male infertility

Key Variants

RS150401753

Conflicting classifications of pathogenicity

Health Risk

RS1446375255

Pathogenic

Spermatogenic failure, X-linked, 6

Health Risk

RS2524103427

Pathogenic

Spermatogenic failure, X-linked, 6

Health Risk

RS747682836

Pathogenic

Spermatogenic failure, X-linked, 6

Health Risk

All Variants (4)

RSID	Category	Clinical Significance	Conditions
RS150401753	Health Risk	Conflicting classifications of pathogenicity	—
RS1446375255	Health Risk	Pathogenic	Spermatogenic failure, X-linked, 6
RS2524103427	Health Risk	Pathogenic	Spermatogenic failure, X-linked, 6
RS747682836	Health Risk	Pathogenic	Spermatogenic failure, X-linked, 6