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JCGG-STR033507 JCGG-STR033528
FCMD encodes glycosyltransferase-like protein, and is considered as a causal gene of the Fukuyama congenital muscular dystrophy (FCMD). The gene-knockout mice exhibit glycan structure alteration of α−dystroglycan. FCMD synthesizes the Rbo5P structure (Rbo5P-3GalNAcb1-3GlcNAcb1-4(phospho)Man-Ser/Thr), the origin 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.
Fukuyama congenital muscular dystrophy glycosyltransferase-like protein ribitol 5-phosphate α−dystroglycan


Alias fukutin    details
DesignationFukuyama type congenital muscular dystrophy (fukutin)
OrganismHomo sapiens
GeneID 2218
HGNC 3622
mRNA NM_006731       (CDS)
Protein NP_006722       (CDS)
OMIM 607440   
This page does not indicate all of the enzymatic reaction, and expression of "FCMD".