USP54
Description
The USP54 (ubiquitin specific peptidase 54) is a protein-coding gene located on chromosome 10.
USP54 lacks peptidase activity, suggesting it may not directly remove ubiquitin from proteins.
USP54 is also known as C10orf29, bA137L10.3, bA137L10.4.
Associated Diseases
- hemoglobin E-beta-thalassemia syndrome
- Rh deficiency syndrome
- IRIDA syndrome
- hemoglobin D disease
- megaloblastic anemia, folate-responsive
- sideroblastic anemia 3
- congenital dyserythropoietic anemia type 4
- anemia, nonspherocytic hemolytic, due to G6PD deficiency
- 22q11.2 deletion syndrome
- combined oxidative phosphorylation deficiency 41
- immunodeficiency 80 with or without congenital cardiomyopathy
- aplasia cutis congenita-intestinal lymphangiectasia syndrome
- Fanconi anemia complementation group V
- dilated cardiomyopathy 1I
