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
Exon/intron information NM_001079802.1 exon/intron table
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 348
Unique public DNA variants reported 139
Individuals with public variants 527
Hidden variants 8
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 September 18, 2020
Version FKTN:200918

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001079802.1.
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
External URL Orphanet
HGNC 3622
Entrez Gene 2218
PubMed articles FKTN
OMIM - Gene 607440
OMIM - Diseases CMD-1X (cardiomyopathy, dilated, type 1X (CMD-1X))
MDDGB-4 (dystrophy, muscular, dystroglycanopathy (congenital without mental retardation), type B4 (MDDGB-4))
GeneCards FKTN
GeneTests FKTN

Active transcripts




NCBI ID     

NCBI Protein ID     

00000121 9 fukutin, transcript variant 1 NM_001079802.1 NP_001073270.1 348

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 © 2006-2020. 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.