USP51
Description
The USP51 (ubiquitin specific peptidase 51) is a protein-coding gene located on chromosome X.
Ubiquitin carboxyl-terminal hydrolase 51 is an enzyme that in humans is encoded by the USP51 gene.
USP51 deubiquitinates histone H2A at specific lysine residues (Lys-14 and Lys-16), playing a crucial role in the DNA damage response at double-strand breaks. It's recruited to chromatin following DNA damage, regulating the assembly and disassembly of DNA repair proteins like TP53BP1 and BRCA1. USP51 also exhibits activity on di-ubiquitin chains linked through Lys-27 or Lys-63.
USP51 is also known as -.
Associated Diseases
- melorheostosis
- dacryocystitis-osteopoikilosis syndrome
- 12q14 microdeletion syndrome
- pyknoachondrogenesis
- gnathodiaphyseal dysplasia
- osteomesopyknosis
- cancer
- autosomal recessive hypophosphatemic rickets
- pachyonychia congenita
- achalasia-alacrima syndrome
- thymic epithelial neoplasm
