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

• Fukuyama congenital muscular dystrophy (FCMD)
  • reduced expression in FCMD brains
  • neurons in regions with no dysplasia show fair expression, whereas transcripts are nearly undetectable in the overmigrated dysplastic region
• muscular dystrophy-dystroglycanopathy MDDGB4
• muscular dystrophy-dystroglycanopathy limb-girdle type C4
• dilated cardiomyopathy type 1X
• Walker-Warburg syndrome

Laboratory

• FKTN gene mutation

More general terms

• membrane protein
• glycoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2218
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2218
• OMIM: https://mirror.omim.org/entry/253800
• OMIM: https://mirror.omim.org/entry/607440
• OMIM: https://mirror.omim.org/entry/611588
• OMIM: https://mirror.omim.org/entry/611615
• OMIM: https://mirror.omim.org/entry/613152
• UniProt: http://www.uniprot.org/uniprot/O75072.html