TAFAZZIN Chromosome X
Tafazzin, phospholipid-lysophospholipid transacylase
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What This Gene Does
This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
Associated Conditions (11)
Primary dilated cardiomyopathy
3-Methylglutaconic aciduria type 2
Endocardial fibroelastosis
Cardiovascular phenotype
TAFAZZIN-related disorder
Cardiomyopathy
Primary familial hypertrophic cardiomyopathy
Thyroid cancer
nonmedullary
1
Left ventricular noncompaction cardiomyopathy
Key Variants
RS1057515818
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, 3-Methylglutaconic aciduria type 2, Endocardial fibroelastosis
Health Risk
RS1223065368
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 2, Cardiovascular phenotype, 3-Methylglutaconic aciduria type 2
Health Risk
RS1298362744
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
Health Risk
RS1557194488
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
Health Risk
RS200405157
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 2, Cardiovascular phenotype, 3-Methylglutaconic aciduria type 2
Health Risk
RS200909606
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 2, Endocardial fibroelastosis, Primary dilated cardiomyopathy
Health Risk
RS2522937677
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
Health Risk
RS2522986801
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 2, TAFAZZIN-related disorder, 3-Methylglutaconic aciduria type 2
Health Risk
RS374146054
Conflicting classifications of pathogenicity
Cardiovascular phenotype, 3-Methylglutaconic aciduria type 2, Cardiovascular phenotype
Health Risk
RS397515739
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
Health Risk
RS397515741
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
Health Risk
RS397515742
Conflicting classifications of pathogenicity
3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
Health Risk
All Variants (109)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2522925157 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522941783 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522941824 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522942574 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522985442 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522985614 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522987117 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522990255 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522990592 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522996339 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2546049717 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS397515738 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS397515740 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS727504431 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, 3-Methylglutaconic aciduria type 2, Thyroid cancer |
| RS781795144 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS878853654 | Health Risk | Likely pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS104894941 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS1557191074 | Health Risk | Pathogenic | Cardiovascular phenotype, 3-Methylglutaconic aciduria type 2, Cardiovascular phenotype |
| RS1557191125 | Health Risk | Pathogenic | — |
| RS1557193815 | Health Risk | Pathogenic | — |
| RS1557193821 | Health Risk | Pathogenic | — |
| RS1557194077 | Health Risk | Pathogenic | — |
| RS1569552731 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS1603376833 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, Thyroid cancer, nonmedullary |
| RS1603377590 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS1603377747 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS1603381671 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS1603381860 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, TAFAZZIN-related disorder, Thyroid cancer |
| RS2148186224 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2148191858 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2148211636 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2148212610 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522925387 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, TAFAZZIN-related disorder, 3-Methylglutaconic aciduria type 2 |
| RS2522925422 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522984951 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2522985080 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522985246 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522985522 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522987020 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522990298 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522996355 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS2522999559 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS375663114 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS387907218 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, Primary dilated cardiomyopathy, 3-Methylglutaconic aciduria type 2 |
| RS397515747 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS587776741 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS727504394 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, Primary dilated cardiomyopathy, 3-Methylglutaconic aciduria type 2 |
| RS781969431 | Health Risk | Pathogenic | — |
| RS794729166 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |
| RS794729167 | Health Risk | Pathogenic | 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2 |