WDR45B

Chr 17

WD repeat domain 45B

Also known as: NEDSBAS, WDR45L, WIPI-3, WIPI3

NCBI Gene: 56270 ENSG00000141580 UniProt: Q5MNZ6

The protein contains seven WD40 repeats that form a beta-propeller structure mediating protein-protein interactions and contains a conserved motif for phospholipid interaction, functioning in preautophagosomal structures. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures. The pathogenic mechanism likely involves disrupted autophagy processes due to impaired preautophagosomal structure formation.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.55

LOEUF

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Mechanism

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GeneReview available — WDR45B