USP32

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Description

The USP32 (ubiquitin specific peptidase 32) is a protein-coding gene located on chromosome 17.

USP32 acts as a deubiquitinase, removing ubiquitin from proteins like RAB7A and LAMTOR1. This process is crucial for regulating the mTORC1 signaling pathway. Specifically, USP32 deubiquitinates LAMTOR1, promoting its association with the lysosomal V-ATPase complex. This interaction activates the mTORC1 complex, ultimately influencing cell growth and metabolism.

USP32 is also known as NY-REN-60, USP10.

Associated Diseases

• cancer
• beta-thalassemia-X-linked thrombocytopenia syndrome
• dehydrated hereditary stomatocytosis
• hemoglobin E-beta-thalassemia syndrome
• hemoglobin D disease
• alpha-thalassemia-myelodysplastic syndrome
• Rh deficiency syndrome
• neutrophil immunodeficiency syndrome
• X-linked sideroblastic anemia 1
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• neutropenia, severe congenital, 1, autosomal dominant
• diabetes mellitus, permanent neonatal 4
• thrombocytopenia 2
• DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome