Literature associating MYCBP2 and hypomyelinating leukodystrophy
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 ...