TAZ
From SNPedia
| is a | gene |
| is | mentioned by |
| EntrezGene | 6901 |
| PheGenI | 6901 |
| VariationViewer | 6901 |
| ClinVar | TAZ |
| GeneCards | TAZ |
| dbSNP | 6901 |
| Diseases | TAZ |
| SADR | 6901 |
| HugeNav | 6901 |
| wikipedia | TAZ |
| TAZ | |
| gopubmed | TAZ |
| EVS | TAZ |
| HEFalMp | TAZ |
| MyGene2 | TAZ |
| 23andMe | TAZ |
| # SNPs | 29 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs104894937 | 3 | 154,413,549 | |
| rs104894941 | 3 | 154,412,129 | |
| rs104894942 | 3 | 154,413,248 | |
| rs1057518416 | 0 | 154,420,265 | |
| rs1064796659 | 0 | 154,414,155 | |
| rs1085307797 | 0 | 154,420,094 | |
| rs132630277 | 3 | 154,420,037 | |
| rs387907218 | 3 | 154,420,676 | |
| rs397515738 | 0 | 154,412,184 | |
| rs397515739 | 0 | 154,413,525 | |
| rs397515740 | 0 | 154,413,504 | |
| rs397515741 | 0 | 154,413,507 | |
| rs397515746 | 0 | 154,420,038 | |
| rs397515747 | 0 | 154,420,657 | |
| rs397515750 | 0 | 154,420,948 | |
| rs587776741 | 3 | 154,420,211 | |
| rs727504327 | 0 | 154,413,544 | |
| rs727504394 | 0 | 154,420,668 | |
| rs727504431 | 0 | 154,420,212 | |
| rs794729166 | 0 | 154,412,130 | |
| rs794729167 | 0 | 154,419,745 | |
| rs794729172 | 0 | 154,420,705 | |
| rs794729173 | 0 | 154,412,206 | |
| rs794729174 | 0 | 154,419,608 | |
| rs868944261 | 0 | 154,420,211 | |
| rs876661038 | 0 | 154,419,541 | |
| rs876661112 | 0 | 154,420,901 | |
| rs878853654 | 0 | 154,412,203 | |
| rs878853655 | 0 | 154,414,191 |
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.
