USP17L3

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Description

The USP17L3 (ubiquitin specific peptidase 17 like family member 3) is a protein-coding gene located on chromosome 8.

USP17L3 is a deubiquitinating enzyme that removes ubiquitin from specific proteins. This process regulates a variety of cellular functions, including cell proliferation, cell cycle progression, apoptosis, cell migration, and the cellular response to viral infection.

USP17L3 is also known as USP17B, USP17F.

Associated Diseases

• immunodeficiency 19
• combined immunodeficiency with skin granulomas
• immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
• severe combined immunodeficiency due to IKK2 deficiency
• ring chromosome Y
• severe combined immunodeficiency due to LAT deficiency
• obesity due to congenital leptin deficiency
• immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias
• immunodeficiency 105
• obesity due to leptin receptor gene deficiency
• spermatogenic failure 65
• common variable immunodeficiency
• immunodeficiency 18
• immunodeficiency 76
• spermatogenic failure 63