DISEASES

Disease-gene associations mined from literature

Literature associating FBXO45 and chromosome 3q29 microdeletion syndrome

FBXO45 [ENSP00000310332]

F-box/SPRY domain-containing protein 1; Component of E3 ubiquitin ligase complexes. Required for normal neuromuscular synaptogenesis, axon pathfinding and neuronal migration (By similarity). Plays a role in the regulation of neurotransmission at mature neurons (By similarity). May control synaptic activity by controlling UNC13A via ubiquitin dependent pathway (By similarity). Specifically recognizes TP73, promoting its ubiquitination and degradation; F-boxes other

Synonyms:  FBXO45,  FBXO45p,  hFBXO45,  C9JLC0,  P0C2W1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM