DISEASES

Disease-gene associations mined from literature

Literature associating NEURL2 and COL4A1-related familial vascular leukoencephalopathy

NEURL2 [ENSP00000361596]

Neuralized E3 ubiquitin protein ligase 2; Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of proteins. Probably contributes to catalysis through recognition and positioning of the substrate and the ubiquitin-conjugating enzyme. During myogenesis, controls the ubiquitination and degradation of the specific pool of CTNNB1/beta-catenin located at the sarcolemma (By similarity).

Synonyms:  NEURL2,  NEURL2p,  hNEURL2,  Q9BR09,  C20orf163 ...

Linkouts:  STRING  Pharos  UniProt  OMIM