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JCGG-STR033528 JCGG-STR033529
FKRP encodes glycosyltransferase-like protein and is considered as a causative gene of limb-girdle muscular dystrophy. FKRP has homology to glycosyltransferase-like protein Fukutin (considered as a causative gene of Fukuyama congenital muscular dystrophy), and thus named as fukutin-related protein (FKRP). The gene-knockout mice exhibit glycan structure alteration of α−dystroglycan. FKRP synthesizes the Rbo5P structure (Rbo5P-Rbo5P-3GalNAcb1-3GlcNAcb1-4(phospho-6)Man-Ser/Thr), the second of the tandem repeats of ribitol 5-phosphate (Rbo5P) in the O-mannose glycan structure of α−dystroglycan. The substrate sugar nucleotide, cytidine diphosphate ribitol (CDP-Rbo) is synthesized by isoprenoid synthase domain-containing protein (ISPD), which is also known as a causative gene of muscular dystrophy.
Limb-Girdle muscular dystrophy glycosyltransferase ribitol 5-phosphate (Rbo5P) α−dystroglycan

Glycosyltransferase-like

GGDB SymbolFKRP
Alias LGMD2I, MDC1C    details
DesignationhFKRP
OrganismHomo sapiens
GeneID 79147
HGNC 17997
mRNA NM_024301       (CDS)
Protein NP_077277       (CDS)
map19q13.33
EC#
CAZy
OMIM 606596   
This page does not indicate all of the enzymatic reaction, and expression of "FKRP".