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
This page does not indicate all of the enzymatic reaction, and expression of "FCMD".