Fukutin-related protein (FKRP)

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

Database

• OMIM: https://mirror.omim.org/entry/236670
• OMIM: https://mirror.omim.org/entry/253280
• OMIM: https://mirror.omim.org/entry/606596
• OMIM: https://mirror.omim.org/entry/606612
• OMIM: https://mirror.omim.org/entry/607155
• UniProt: http://www.uniprot.org/uniprot/Q9H9S5.html