DISEASES

Disease-gene associations mined from literature

Literature associating LNX1 and brittle cornea syndrome 1

LNX1 [ENSP00000263925]

Ligand of numb-protein X 1, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of NUMB. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of isoform p66 and isoform p72 of NUMB, but not that of isoform p71 or isoform p65; PDZ domain containing

Synonyms:  LNX1,  LNX1p,  hLNX1,  D6RAH9,  D6RB76 ...

Linkouts:  STRING  Pharos  UniProt  OMIM