TAZ gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol TAZ
Gene name tafazzin
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_000116.3, NM_181311.2, NM_181312.2, NM_181313.2, NR_024048.1
Associated with diseases BTHS
Citation reference(s) -
Curators (0) -
Total number of public variants reported 403
Unique public DNA variants reported 233
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
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
HGNC 11577
Entrez Gene 6901
PubMed articles TAZ
OMIM - Gene 300394
OMIM - Diseases BTHS (BARTH SYNDROME)
HGMD TAZ
GeneCards TAZ
GeneTests TAZ


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000320 X transcript variant 5 NR_024048.1 - 403
00000321 X transcript variant 1 NM_000116.3 NP_000107.1 403
00000322 X transcript variant 3 NM_181312.2 NP_851829.1 403
00000323 X transcript variant 2 NM_181311.2 NP_851828.1 403
00000324 X transcript variant 4 NM_181313.2 NP_851830.1 403


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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