Fukutin Related Protein

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Expression 5 Pathology 6 More General Terms 7 Internet Database 8 References

Function

• transferase involved in modification of glycan moieties of alpha-dystroglycan ( DAG1) ( putative)

Structure

• belongs to the licD transferase family

Compartment

• Golgi membrane

Expression

• expressed in skeletal muscle, placenta, & heart > brain, lung, liver kidney, pancreas

Pathology

• defects in FKRP are the cause of congenital muscular dystrophy type 1C ( MDC1C)
• defects in FKRP are the cause of limb-girdle muscular dystrophy type 2I
• defects in FKRP may be a cause of muscle-eye-brain disease
• defects in FKRP may be a cause of Walker-Warburg syndrome

More General Terms

• transferase
• glycoprotein
• membrane protein

Internet Database

OMIM: 236670
OMIM: 253280
OMIM: 606596
OMIM: 606612
OMIM: 607155
UniProt: [1]

References

1. UniProt [2]
2. GeneReviews [3]
3. GGDB, GlycoGene database [4]

Fukutin-related protein (FKRP)