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

FKRP gene

The FKRP gene provides instructions for making a protein essential for the glycosylation of alpha-dystroglycan, which stabilizes muscle fibers and supports brain development.

Normal Function

The FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP). This protein is present in many of the body's tissues but is particularly abundant in the brain, heart (cardiac) muscle, and muscles used for movement (skeletal muscles). Within cells, FKRP is found in a specialized structure called the Golgi apparatus, where newly produced proteins are modified.

FKRP is involved in a process called glycosylation. Through this chemical process, sugar molecules are added to certain proteins. In particular, FKRP adds a molecule called ribitol 5-phosphate to the chain of sugars attached to a protein called alpha (α)-dystroglycan. Glycosylation is critical for the normal function of α-dystroglycan.

The α-dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, glycosylated α-dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.

Health Conditions Related to Genetic Changes

Walker-Warburg syndrome

At least five mutations in the FKRP gene have been found to cause Walker-Warburg syndrome. This condition is the most severe form of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the brain and eyes.

Many FKRP gene mutations involved in Walker-Warburg syndrome change single protein building blocks (amino acids) in FKRP. The altered protein cannot reach the Golgi apparatus and is instead broken down, reducing the amount of functional FKRP. A shortage of FKRP prevents the normal glycosylation of α-dystroglycan, causing muscle fibers to become damaged as they contract and relax. Defective α-dystroglycan also affects the migration of neurons, leading to a brain abnormality called cobblestone lissencephaly, where the surface of the brain lacks normal folds and grooves.

Limb-girdle muscular dystrophy

MedlinePlus Genetics provides information about Limb-girdle muscular dystrophy.

Other disorders

Mutations in the FKRP gene have been found in a small number of people with congenital muscular dystrophy type 1C (MDC1C), which causes muscle weakness, brain abnormalities, and intellectual disability. Rarely, mutations in the FKRP gene are associated with muscle eye brain disease, which causes muscle weakness, eye problems, and intellectual disability.

Other Names for This Gene

  • FKRP_HUMAN
  • LGMD2I
  • MDC1C
  • MDDGA5
  • MDDGB5
  • MDDGC5

Frequently Asked Questions

Walker-Warburg syndrome is inherited in an autosomal recessive pattern. This means that a child must inherit two copies of the mutated FKRP gene (one from each parent) to develop the condition. Parents who each carry one copy of the mutated gene are typically healthy and unaware they are carriers. For carrier parents, there is a 25% chance with each pregnancy that their child will inherit two mutated copies and develop Walker-Warburg syndrome, a 50% chance the child will be a carrier, and a 25% chance the child will inherit two normal copies of the gene. Genetic counseling is recommended for affected families.
Diagnosis of Walker-Warburg syndrome typically involves a combination of clinical evaluation, brain imaging (MRI) to identify characteristic abnormalities like lissencephaly, and sometimes a muscle biopsy. Genetic testing for mutations in the FKRP gene is crucial for confirming the diagnosis, as specific mutations in this gene are known to cause the condition. This genetic confirmation helps differentiate Walker-Warburg syndrome from other forms of congenital muscular dystrophy.
There is currently no cure for Walker-Warburg syndrome, so treatment focuses on supportive care to manage symptoms and improve quality of life. This includes physical and occupational therapy to address muscle weakness, respiratory support, feeding assistance (often through a gastrostomy tube), and management of seizures or other neurological complications. Unfortunately, due to the severity of the brain and muscle involvement, the prognosis is generally poor, with most affected children not surviving beyond early childhood.
Walker-Warburg syndrome is a severe condition, and early signs often include profound muscle weakness (hypotonia or "floppy baby" syndrome) at birth or shortly after. Infants may have difficulty feeding, breathing, and achieving developmental milestones. Brain abnormalities like lissencephaly (smooth brain surface) and hydrocephalus, along with eye abnormalities, are also common. Parents should seek immediate medical attention if they observe severe muscle weakness, feeding difficulties, respiratory distress, or unusual head shape or eye movements in their infant.
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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