Disease-gene associations mined from literature

Literature associating FBXO7 and corneal disease

FBXO7 [ENSP00000266087]

F-box only 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 target proteins. Recognizes BIRC2 and DLGAP5. Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination; F-boxes other

Synonyms:  FBXO7,  FBXO7p,  hFBXO7,  A2A281,  A2A282 ...

Linkouts:  STRING  Pharos  UniProt  OMIM