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TAZ

From SNPedia

is agene
is mentioned by
EntrezGene6901
PheGenI6901
VariationViewer6901
ClinVarTAZ
GeneCardsTAZ
dbSNP6901
SADR6901
HugeNav6901
wikipediaTAZ
googleTAZ
gopubmedTAZ
EVSTAZ
HEFalMpTAZ
MyGene2TAZ
23andMeTAZ
# SNPs26
 Max MagnitudeChromosome positionSummary
rs1048949373154,413,549
rs1048949413154,412,129
rs1048949423154,413,248
rs1326302773154,420,037
rs3879072183154,420,676
rs3975157380154,412,184
rs3975157390154,413,525
rs3975157400154,413,504
rs3975157410154,413,507
rs3975157460154,420,038
rs3975157470154,420,657
rs3975157500154,420,948
rs5877767413154,420,211
rs7275043270154,413,544
rs7275043940154,420,668
rs7275044310154,420,212
rs7947291660154,412,130
rs7947291670154,419,745
rs794729172154,420,705
rs7947291730154,412,206
rs7947291740154,419,608
rs8766610380154,419,541
rs8766611120154,420,901
rs878853654
rs8788536550154,414,191


Mutations in this gene, also known as the Tafazzin gene, are the primary cause of the disease known as Barth Syndrome.

The disease is rare, recessive, and X-linked, so carriers are primarily females and patients are primarily (young) males. Several different mutations have been reported; almost all either severely truncate or disrupt the Taffazin protein.