Gene FKRP

Also known as

LGMD2I, MDC1C, fukutin related protein

Overview

FKRP (Fukutin Related Protein) encodes a protein involved in the glycosylation of alpha-dystroglycan, a critical component of the dystrophin-glycoprotein complex that links the muscle cell cytoskeleton to the extracellular matrix. Proper glycosylation of alpha-dystroglycan is essential for muscle fiber integrity and function.

Mutations in FKRP cause a spectrum of muscular dystrophies ranging from severe congenital muscular dystrophy type 1C (MDC1C) with brain abnormalities to milder limb-girdle muscular dystrophy type 2I (LGMD2I). LGMD2I is one of the most common forms of limb-girdle muscular dystrophy in European populations. Severity correlates with residual glycosyltransferase activity, with the common L276I mutation typically causing milder disease.

Understanding your FKRP genetic status is important for diagnosing unexplained muscle weakness and elevated creatine kinase levels. Early identification enables appropriate cardiac monitoring (as cardiomyopathy can occur), family genetic counseling, and access to emerging therapies.

NutraHacker Raw DNA Analysis Products that include this gene

• Carrier Status & Drug Response Report

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