DISEASES

Disease-gene associations mined from literature

Literature associating FBXL7 and Van Maldergem syndrome

FBXL7 [ENSP00000423630]

F-box and leucine-rich repeat protein 7; Substrate recognition component of a SCF (SKP1-CUL1-F- box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of AURKA during mitosis, causing mitotic arrest; F-box and leucine rich repeat proteins

Synonyms:  FBXL7,  FBXL7p,  hFBXL7,  J3KNM9,  Q9UJT9 ...

Linkouts:  STRING  Pharos  UniProt  OMIM