Fukutin-related protein

Fukutin-related protein (FKRP) is a protein that in humans is encoded by the FKRP gene. This protein is involved in the maintenance of muscle integrity, and mutations in this gene have been associated with several types of muscular dystrophy.

Function

The FKRP protein is involved in the glycosylation of alpha-dystroglycan, a protein that connects the cytoskeleton of muscle fibers to the surrounding extracellular matrix. This connection is crucial for the stability and resilience of muscle fibers.

Clinical significance

Mutations in the FKRP gene can lead to a variety of muscular dystrophies, including Limb-girdle muscular dystrophy type 2I (LGMD2I), Congenital muscular dystrophy (CMD), Muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). These conditions are characterized by progressive muscle weakness and wasting, and in severe cases, brain and eye abnormalities.

Genetics

The FKRP gene is located on the short (p) arm of chromosome 19 at position 13.3. It spans about 16 kilobases and consists of 4 exons. The FKRP protein it encodes is 495 amino acids long.

See also

• Muscular dystrophy
• Glycosylation
• Alpha-dystroglycan

External links

• FKRP gene on NCBI
• FKRP gene on GHR