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WASHC5 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

WASHC5 gene

The WASHC5 gene provides instructions for making the protein strumpellin, which is involved in cell structure and the transport of materials within cells.

Normal Function

The WASHC5 gene provides instructions for making a protein called strumpellin. This protein contains a repeating segment called a spectrin repeat, which helps it interact with the cell's internal structural framework (the cytoskeleton). Strumpellin binds with other proteins to form the WASH complex, which regulates actin proteins. This complex is vital for the activity of endosomes—structures that sort, transport, and recycle materials within the cell.

Health Conditions Related to Genetic Changes

Spastic paraplegia type 8

Variants in the WASHC5 gene can cause spastic paraplegia type 8, a hereditary disorder characterized by progressive muscle stiffness and weakness. These variants typically alter the structure of the strumpellin protein, which is thought to interfere with the transport of important molecules within the cell.

Other Disorders

Variants in the WASHC5 gene are also linked to 3C syndrome (Ritscher-Schinzel syndrome). This condition affects the development of the head, face, brain, and heart. Common features include:

  • Dandy-Walker malformation (a structural brain abnormality).
  • Cleft palate.
  • Coloboma (missing tissue in eye structures).
  • Intellectual disabilities.

Other Names for This Gene

  • KIAA0196
  • RTSC
  • RTSC1
  • SPG8

Genomic Location

The WASHC5 gene is found on chromosome 8.

Frequently Asked Questions

Certain WASHC5 variants disrupt strumpellin function, affecting brain and organ development, resulting in 3C syndrome (Ritscher‑Schinzel). Management is multidisciplinary: early intervention for developmental delays, surgical correction for cleft palate or coloboma, and cardiac monitoring for heart defects. Genetic counseling can help families understand recurrence risks and plan for future pregnancies.
Early symptoms include gradual stiffness and weakness in the legs, difficulty walking, and a tendency to fall. You may also notice increased muscle tone (spasticity) and slowed reflexes. If you or a family member experiences these signs, a neurologist can evaluate for SPG8 and consider genetic testing.
Management focuses on symptom relief: physical therapy to improve mobility, occupational therapy for daily activities, and medications such as baclofen or tizanidine to reduce spasticity. In some cases, botulinum toxin injections or orthopedic interventions may help. Regular follow‑up with a neurologist is essential to adjust therapy as the disease progresses.
Confirmation is done by sequencing the WASHC5 gene from a blood sample. The test looks for pathogenic variants that alter the strumpellin protein. No special preparation is needed, but you should inform the lab of any medications that might affect blood tests.
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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