USP17L1

---

Description

The USP17L1 (ubiquitin specific peptidase 17 like family member 1) is a protein-coding gene located on chromosome 8.

USP17L1 is a deubiquitinating enzyme (DUB) that removes ubiquitin tags from specific proteins, playing a key role in regulating various cellular processes. These processes include cell proliferation, cell cycle progression, programmed cell death (apoptosis), cell movement (migration), and the body's response to viral infections.

USP17L1 is also known as USP17L1P.

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