TAZ gene homepage

The variants collected by the Barth Syndrome Foundation were used to initiate this database
General information
Gene symbol TAZ
Gene name tafazzin
Chromosome X
Chromosomal band q28
Imprinted Not imprinted
Genomic reference NG_009634.1
Transcript reference NM_000116.3
Exon/intron information NM_000116.3 exon/intron table
Associated with diseases BTHS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 456
Unique public DNA variants reported 261
Individuals with public variants 334
Hidden variants 8
Download all this gene's data Download all data
Notes The variants collected by the Barth Syndrome Foundation were used to initiate this database
Date created September 13, 2012
Date last updated June 24, 2020
Version TAZ:200624

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_000116.3.
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.LOVD.nl/TAZ
External URL Barth Syndrome Foundation
HGNC 11577
Entrez Gene 6901
PubMed articles TAZ
OMIM - Gene 300394
OMIM - Diseases BTHS (MGCA-2)
GeneCards TAZ
GeneTests TAZ

Active transcripts




NCBI ID     

NCBI Protein ID     

00000946 X transcript variant 1 NM_000116.3 NP_000107.1 456

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 © 2012-2020. 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.