Disease-gene associations mined from literature

Literature associating UCHL1 and cauda equina neoplasm

UCHL1 [ENSP00000284440]

Ubiquitin carboxyl-terminal hydrolase isozyme L1; Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins (Probable). This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin (PubMed:9774100, PubMed:8639624, PubMed:12408865, PubMed:23359680). Also binds to free monoubiquitin and may prevent its degradation in lysosomes (By similarity). The homodimer may have ATP-independent ubiquitin ligase activity . ECO:0000269|PubMed:12408865, ECO:0000269|PubMed:23359680, ECO:0000269|PubMed:8639624, ECO:0000269|PubMed:9774100, ECO:0000305|PubMed:12408865, ECO:0000305|PubMed:23359680,

Synonyms:  UCHL1,  UCHL1p,  hUCHL1,  D6R956,  D6R974 ...

Linkouts:  STRING  Pharos  UniProt  OMIM