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fukutin; Fukuyama-type congenital muscular dystrophy protein (FKTN, FCMD)
Function:
- may be a glycosyltransferase involved in modification of glycan moieties of alpha-dystroglycan
- may associate with a large molecular complex encompassing the outside & inside of muscle membranes
- may be involved in brain development
Structure: belongs to the licD transferase family
Compartment:
- Golgi membrane
- single-pass type 2 membrane protein (putative)
Expression:
- widely expressed
- highest expression in brain, heart, pancreas & skeletal muscle
- expressed at similar levels in control fetal & adult brain,
- expressed in migrating neurons, including Cajar-Retzius cells & adult cortical neurons, hippocampal pyramidal cells & cerebellar Purkinje cells
- no expression in the glia limitans, the subpial astrocytes (which contribute to basement membrane formation) or other glial cells
Pathology:
defects in FKTN are the cause of
1) Fukuyama congenital muscular dystrophy (FCMD)
a) reduced expression in FCMD brains
b) neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region
2) muscular dystrophy-dystroglycanopathy MDDGB4
3) muscular dystrophy-dystroglycanopathy limb-girdle type C4
4) dilated cardiomyopathy type 1X
5) Walker-Warburg syndrome
Laboratory:
- FKTN gene mutation
General
glycoprotein
membrane protein
Properties
SIZE: MW = 54 kD
entity length = 461 aa
COMPARTMENT: golgi
MOTIF: transmembrane domain {8-28}
N-glycosylation site {N92}
Database Correlations
OMIM correlations
MORBIDMAP 607440
UniProt O75072
Pfam PF04991
Entrez Gene 2218
Kegg hsa:2218
References
- UniProt :accession O75072
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FKTN
- GGDB; Note: glycogene database
http://riodb.ibase.aist.go.jp/rcmg/ggdb/