FKRP : fukutin related protein

Description

The FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP), crucial for the proper function of muscles. FKRP is involved in the synthesis of glycosylphosphatidylinositol (GPI) anchors, which attach certain proteins to the cell membrane. Mutations in the FKRP gene can disrupt the production of functional FKRP, leading to various muscle disorders.

Associated Diseases

• Limb-girdle muscular dystrophy type 2I (LGMD2I)
• Merosin-deficient congenital muscular dystrophy (MDC1A)
• Walker-Warburg syndrome (WWS)
• Fukuyama congenital muscular dystrophy (FCMD)
• Muscle-eye-brain disease (MEB)

Did you know?

Mutations in the FKRP gene are responsible for a spectrum of muscular dystrophies, showcasing the diverse impact of a single gene on muscle function.