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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
General
glycoprotein
membrane protein
transferase
Properties
SIZE: MW = 55 kD
entity length = 495 aa
COMPARTMENT: golgi
MOTIF: transmembrane domain {7-27}
N-glycosylation site {N172}
N-glycosylation site {N209}
Database Correlations
OMIM correlations
MORBIDMAP 606596
UniProt Q9H9S5
Pfam PF04991
References
- UniProt :accession Q9H9S5
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FKRP
- GGDB, GlycoGene database
http://ggdb.muse.aist.go.jp/GGDB/index.jsp