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WDR45 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

WDR45 gene

The WDR45 gene provides instructions for a protein involved in autophagy, a cellular recycling process essential for maintaining nerve cell health.

Normal Function

The WDR45 gene provides instructions for making a protein called WIPI4 (WD40 repeat protein interacting with phosphoinositides 4). This protein is involved in autophagy, a process that clears unneeded materials from cells, such as excess ferritin (an iron storage protein). During autophagy, worn-out cell parts and waste are isolated in compartments called autophagosomes. WIPI4 helps regulate the production and elongation of these autophagosomes, which are then transported to lysosomes—the cell's recycling centers—to be broken down by digestive enzymes.

Health Conditions Related to Genetic Changes

Beta-propeller protein-associated neurodegeneration

More than 50 WDR45 gene mutations have been identified in people with beta-propeller protein-associated neurodegeneration (BPAN). This disorder damages the nervous system, leading to:

  • Delayed development and recurrent seizures (epilepsy) starting in infancy or early childhood.
  • Progressive movement problems.
  • Gradual loss of intellectual functioning in adulthood.
  • Buildup of iron in the brain, classifying it as a type of neurodegeneration with brain iron accumulation (NBIA).

Most WDR45 mutations result in an unstable WIPI4 protein that is quickly broken down, leading to a loss of function. This impairs autophagy, making cells less efficient at removing damaged organelles and waste. Nerve cells (neurons) are particularly vulnerable because their long extensions (axons and dendrites) make it difficult to transport waste to the cell body for recycling. The resulting buildup of waste materials damages the neurons, causing the neurological symptoms of BPAN.

Genomic Location

The WDR45 gene is found on the X chromosome.

Frequently Asked Questions

definitive diagnosis is made by identifying a pathogenic mutation in the WDR45 gene on the X chromosome. This is usually done via targeted gene sequencing, whole‑exome sequencing, or a neurodegeneration‑specific panel. Because WDR45 is on the X chromosome, male patients typically have a single mutated allele, while females may be mosaic or have skewed X‑inactivation.
BPAN typically presents with developmental delay or regression in early childhood, followed by seizures that may begin in infancy or early childhood. In adolescence or adulthood, patients often develop progressive movement disorders such as dystonia or parkinsonism, and there may be a gradual decline in intellectual function. MRI showing iron deposition in the basal ganglia is a key diagnostic clue.
Seizure control often requires a combination of antiepileptic drugs tailored to the individual’s seizure type; levetiracetam, valproate, or lamotrigine are commonly used. For movement disorders, medications such as levodopa, dopamine agonists, or anticholinergics can help, and deep brain stimulation is being explored in research settings. Physical, occupational, and speech therapy are essential for maintaining function.
Yes. Males, having only one X chromosome, usually exhibit more severe symptoms and earlier onset because they lack a normal copy of WDR45. Females may have milder or variable presentations due to random X‑inactivation; some may be asymptomatic carriers while others experience significant neurological decline. Genetic counseling should address these sex‑specific differences.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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