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

CRPPA gene

The CRPPA gene plays a critical role in glycosylation, a process essential for stabilizing muscle fibers and directing nerve cell migration.

Normal Function

The CRPPA gene provides instructions for making a protein involved in glycosylation, a chemical process where sugar molecules are added to certain proteins. Specifically, the CRPPA protein helps produce ribitol 5-phosphate, a component of the sugar chain added to a protein called alpha (α)-dystroglycan.

Glycosylation is critical for the function of α-dystroglycan, which anchors the cell's structural framework (cytoskeleton) to the extracellular matrix. This process is vital for:

  • Skeletal muscles: Stabilizing and protecting muscle fibers.
  • Brain development: Directing the migration of neurons during early development.

Health Conditions Related to Genetic Changes

Walker-Warburg syndrome

At least 17 mutations in the CRPPA gene have been found to cause Walker-Warburg syndrome, the most severe form of congenital muscular dystrophies. This condition causes skeletal muscle weakness and abnormalities of the brain and eyes; affected individuals usually do not survive past early childhood.

Mutations in the CRPPA gene prevent the normal glycosylation of α-dystroglycan, meaning it can no longer effectively anchor cells. Consequences include:

  • Muscle damage: Without functional α-dystroglycan, muscle fibers become damaged during contraction and relaxation, eventually weakening and dying.
  • Brain abnormalities: Defective α-dystroglycan disrupts neuronal migration. This leads to cobblestone lissencephaly, where the brain surface appears bumpy and irregular instead of having normal folds and grooves.

Limb-girdle muscular dystrophy

MedlinePlus Genetics provides information about Limb-girdle muscular dystrophy.

Other Names for This Gene

  • 2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein
  • 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog
  • hCG_1745121
  • Isoprenoid synthase domain containing
  • Isoprenoid synthase domain-containing protein
  • IspD
  • ISPD
  • MDDGA7
  • Nip
  • Notch1-induced protein

Frequently Asked Questions

CRPPA‑related disorders are inherited in an autosomal recessive pattern. Each sibling of an affected child has a 25 % chance of being affected, a 50 % chance of being an asymptomatic carrier, and a 25 % chance of inheriting two normal alleles. Carrier testing of both parents confirms they each carry one pathogenic variant.
Diagnosis is made by molecular genetic testing of the CRPPA gene, usually via next‑generation sequencing panels for congenital muscular dystrophy or whole‑exome sequencing. If a pathogenic variant is found, parental carrier testing and, when appropriate, prenatal or pre‑implantation testing can be offered.
Currently there is no disease‑modifying cure. Management focuses on multidisciplinary supportive care: physiotherapy to maintain range of motion, orthotic devices to aid ambulation, respiratory monitoring with non‑invasive ventilation when needed, and cardiac surveillance. Experimental approaches such as gene‑replacement or substrate‑supplementation trials are under investigation but not yet standard care.
Key early signs include severe hypotonia or weakness, brain malformations such as cobblestone lissencephaly on MRI, ocular abnormalities (e.g., retinal dysplasia), and a characteristic “frog‑leg” posture. The combination of muscle weakness with structural brain defects should raise suspicion for a CRPPA mutation.
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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