DISEASES

Disease-gene associations mined from literature

Literature associating TRIM40 and hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

TRIM40 [ENSP00000379826]

Tripartite motif-containing protein 40; May function as an E3 ubiquitin-protein ligase of the NEDD8 conjugation pathway. Promotes neddylation of IKBKG/NEMO, stabilizing NFKBIA, and inhibiting of NF-kappaB nuclear translocation and activity. ; Belongs to the TRIM/RBCC family.

Synonyms:  TRIM40,  TRIM40p,  hTRIM40,  A0A1U9X8U1,  Q6P9F5 ...

Linkouts:  STRING  Pharos  UniProt