FKTN gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol FKTN
Gene name fukutin
Chromosome 9
Chromosomal band q31-q33
Imprinted Unknown
Genomic reference NG_008754.1
Transcript reference NM_001079802.1
Associated with diseases CMD-1X, ID, LGMD-2, LGMD-2M, MDDGA-4, MDDGB-4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Johan den Dunnen and Rosário dos Santos
Total number of public variants reported 262
Unique public DNA variants reported 90
Individuals with public variants 364
Hidden variants 1
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Date created June 06, 2006
Date last updated November 01, 2018
Version FKTN:181101

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.DMD.nl/fcmd_home.html
External URL Orphanet
HGNC 3622
Entrez Gene 2218
PubMed articles FKTN
OMIM - Gene 607440
OMIM - Diseases CMD-1X (cardiomyopathy, dilated, type 1X (CMD-1X))
LGMD-2M (MDDGC-4)
MDDGA-4 (MEB)
MDDGB-4 (dystrophy, muscular, dystroglycanopathy (congenital without mental retardation), type B4 (MDDGB-4))
HGMD FKTN
GeneCards FKTN
GeneTests FKTN


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000121 9 fukutin, transcript variant 1 NM_001079802.1 NP_001073270.1 262


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2006-2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.