GGDB:

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.

Keyword: Fukuyama congenital muscular dystrophy , glycosyltransferase-like protein , ribitol 5-phosphate , α−dystroglycan

	CDP-Rbo
JCGG-STR033507		JCGG-STR033528

Glycosyltransferase-like

GGDB Symbol

FCMD Alias

Designation

Fukuyama type congenital muscular dystrophy (fukutin)

Organism

Homo sapiens

GeneID

2218

HGNC

FKTN (3622)

mRNA

NM_006731

map

9q31-q33

Protein

NP_006722

EC#

CAZy

GlyCosmos Glycogenes

FCMD

OMIM

607440

Disease name

CMD1X , Dilated cardiomyopathy , FCMD , Fukuyama congenital muscular dystrophy , LGMD2M , Limb-girdle muscular dystrophy type 2M

GDGDB

CON00378 CON00379 CON00380

Human Protein Atlas

ENSG00000106692

Mus musculus

mRNA	NM_139309
Protein	NP_647470
MGI	80355

Rattus norvegicus

mRNA	XM_342838
Protein	XP_342839

Caenorhabditis elegans

mRNA	NM_064835
Protein	NP_497236

Cell Rep 2009-05-01 ;72(21):1802-9.

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Mercuri E. et al. PMID:19299310

Neuromuscul. Disord. 2010-08-01 ;20(8):524-30.

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.

Lim BC. et al. PMID:20620061

Neurology 2016-03-01 ;14(9):2209-23.

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.

Kanagawa M. et al. PMID:26923585 Refer to: Fig. 5

DONOR : CDP-Rbo

Glc	Man	Gal	GlcNAc	GalNAc	Fuc	Xyl	Neu5Ac	Neu5Gc	GlcA	IdoA	GlcN

Substrate Transferred

	JCGG-STR033507	CDP-Rbo	JCGG-STR033528

RNA Expression from Human Protein Atlas

This RNA expression data uses "HPA data" from the Human Protein Atlas. Tissue RNA Expression

data available from v22.proteinatlas.org

Cell Rep 2000-12-01 ;9(20):3083-90.

Neuronal expression of the fukutin gene.

Sasaki J. et al. PMID:11115853

Nature 1998-07-01 ;394(6691):388-92.

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.

Kobayashi K. et al. PMID:9690476

cerebellumfetal brainfetal kidneyfetal liverfetal lungheartpancreasskeletal musclewhole brain

Provided by GOA

Function
transferase activity

Process
muscle organ development
negative regulation of cell proliferation
negative regulation of JNK cascade
nervous system development
protein O-linked mannosylation
regulation of protein glycosylation

Component
Golgi apparatus
Golgi membrane
cis-Golgi network
endoplasmic reticulum
extracellular space
integral component of membrane
nucleus

FCMD

Glycosyltransferase-like

Orthologous Gene

Mus musculus

Rattus norvegicus

Caenorhabditis elegans

Acceptor Substrates (Reference)

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea.

Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.

DONOR : CDP-Rbo

Substrate Transferred

Acceptor Substrates (KEM-C)

Expression

Expression (Reference)

Neuronal expression of the fukutin gene.

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy.

Gene Ontology