DISEASES

Disease-gene associations mined from literature

Literature associating MYCBP2 and Pelizaeus-Merzbacher disease

MYCBP2 [ENSP00000444596]

MYC binding protein 2, E3 ubiquitin protein ligase; E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin. Interacts with the E2 enzymes UBE2D1, UBE2D3 and UBE2L3 (in vitro). May function as a facilitator or regulator of transcriptional activation by MYC. May have a role during synaptogenesis; Belongs to the highwire family.

Synonyms:  MYCBP2,  MYCBP2p,  hMYCBP2,  J3KPZ3,  MYCBP2-001 ...

Linkouts:  STRING  Pharos  UniProt