Disease-gene associations mined from literature

Literature associating UCHL1 and cauda equina neoplasm

UCHL1 [ENSP00000284440]

Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase); Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes. The homodimer may have ATP-independent ubiquitin ligase activity; Parkinson disease associated genes

Synonyms:  UCHL1,  UCHL1p,  hUCHL1,  A6NLJ7,  D6R956 ...

Linkouts:  STRING  Pharos  UniProt  OMIM