DISEASES

Disease-gene associations mined from literature

Literature associating TRIM63 and tibial muscular dystrophy

TRIM63 [ENSP00000363390]

E3 ubiquitin-protein ligase TRIM63; E3 ubiquitin ligase. Mediates the ubiquitination and subsequent proteasomal degradation of CKM, GMEB1 and HIBADH. Regulates the proteasomal degradation of muscle proteins under amino acid starvation, where muscle protein is catabolized to provide other organs with amino acids. Inhibits de novo skeletal muscle protein synthesis under amino acid starvation. Regulates proteasomal degradation of cardiac troponin I/TNNI3 and probably of other sarcomeric-associated proteins. May play a role in striated muscle atrophy and hypertrophy by regulating an anti-hypertrophic PKC-mediated signaling pathway. May regulate the organization of myofibrils through TTN in muscle cells.

Synonyms:  TRIM63,  TRIM63p,  hTRIM63,  Q969Q1,  Q969Q1p ...

Linkouts:  STRING  Pharos  UniProt  OMIM