DISEASES

Disease-gene associations mined from literature

Literature associating WDR45B and spastic quadriplegia

WDR45B [ENSP00000376139]

WD repeat domain phosphoinositide-interacting protein 3; Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation . Binds phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases and is recruited at phagophore assembly sites where it regulates the elongation of nascent phagophores downstream of WIPI2 . In the cellular response to starvation, may also function together with the TSC1-TSC2 complex and RB1CC1 in the inhibition of the mTORC1 signaling pathway .

Synonyms:  WDR45B,  WDR45Bp,  hWDR45B,  I3L1D0,  I3L3A5 ...

Linkouts:  STRING  Pharos  UniProt