WDR45B gene

WD repeat domain 45B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the WIPI or SVP1 family of WD40 repeat-containing proteins. The protein contains seven WD40 repeats that are thought to fold into a beta-propeller structure that mediates protein-protein interactions, and a conserved motif for interaction with phospholipids. The human genome contains several pseudogenes of this gene. [provided by RefSeq, Jul 2008]

From UniProt:

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 (PubMed:28561066). 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 (PubMed:28561066). 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 (PubMed:28503735).

From NCBI Gene:

  • NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES

From UniProt:

Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures (NEDSBAS): An autosomal recessive disorder characterized by profound developmental delay, progressive spastic quadriplegia and contractures, early-onset refractory epilepsy in most patients, and brain malformations. Neuroimaging shows ventriculomegaly, reduced cerebral white matter volume, and thinning of cerebral gray matter. [MIM:617977]

Cytogenetic Location: 17q25.3, which is the long (q) arm of chromosome 17 at position 25.3

Molecular Location: base pairs 82,614,562 to 82,648,535 on chromosome 17 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 17q25.3, which is the long (q) arm of chromosome 17 at position 25.3
  • NEDSBAS
  • WDR45L
  • WIPI-3
  • WIPI3