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0 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TAFAZZIN
tafazzin, phospholipid-lysophospholipid transacylase
Chromosome X · Xq28
NCBI Gene: 6901Ensembl: ENSG00000102125.17HGNC: HGNC:11577UniProt: A0A0S2Z4E6
134PubMed Papers
21Diseases
0Drugs
103Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
1-acylglycerophosphocholine O-acyltransferase activitymitochondrial intermembrane spacecardiolipin acyl-chain remodelingcristae formationBarth syndromedilated cardiomyopathyAbnormality of the cardiovascular systemcardiomyopathy
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

tafazzin, phospholipid-lysophospholipid transacylase

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
Barth syndromeOpen Targets
0.81Strong
dilated cardiomyopathyOpen Targets
0.50Moderate
Abnormality of the cardiovascular systemOpen Targets
0.47Moderate
cardiomyopathyOpen Targets
0.44Moderate
familial isolated dilated cardiomyopathyOpen Targets
0.37Weak
Left ventricular noncompaction cardiomyopathyOpen Targets
0.32Weak
endocardial fibroelastosisOpen Targets
0.19Weak
gastric carcinomaOpen Targets
0.16Weak
left ventricular noncompactionOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
dilated cardiomyopathy 1AOpen Targets
0.12Weak
familial dilated cardiomyopathyOpen Targets
0.12Weak
familial hypertrophic cardiomyopathyOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.12Weak
cancerOpen Targets
0.12Weak
breast cancerOpen Targets
0.12Weak
melanomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
gliomaOpen Targets
0.11Weak
triple-negative breast cancerOpen Targets
0.11Weak
Barth syndromeUniProt
Pathogenic Variants103
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)Pathogenic
not provided|3-Methylglutaconic aciduria type 2
★★☆☆2025→ Residue 94
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)Pathogenic
3-Methylglutaconic aciduria type 2|not provided
★★☆☆2025→ Residue 94
NM_000116.5(TAFAZZIN):c.777+1G>APathogenic
Cardiomyopathy|3-Methylglutaconic aciduria type 2
★★☆☆2025
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)Pathogenic
3-Methylglutaconic aciduria type 2|not provided
★★☆☆2025→ Residue 51
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter)Pathogenic
not provided|3-Methylglutaconic aciduria type 2
★★☆☆2025→ Residue 195
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)Pathogenic
3-Methylglutaconic aciduria type 2|TAFAZZIN-related disorder|not provided
★★☆☆2025→ Residue 197
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)Pathogenic
3-Methylglutaconic aciduria type 2|not provided
★★☆☆2025→ Residue 123
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)Likely pathogenic
3-Methylglutaconic aciduria type 2
★★☆☆2025→ Residue 94
NM_000116.5(TAFAZZIN):c.109+5G>CLikely pathogenic
3-Methylglutaconic aciduria type 2|not provided
★★☆☆2025
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)Pathogenic
not provided|3-Methylglutaconic aciduria type 2
★★☆☆2024→ Residue 216
NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter)Pathogenic
not provided|3-Methylglutaconic aciduria type 2
★★☆☆2024→ Residue 52
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)Pathogenic
3-Methylglutaconic aciduria type 2
★★☆☆2024→ Residue 124
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)Likely pathogenic
3-Methylglutaconic aciduria type 2
★★☆☆2024→ Residue 95
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs)Pathogenic
Cardiovascular phenotype|3-Methylglutaconic aciduria type 2
★★☆☆2024→ Residue 49
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)Pathogenic
3-Methylglutaconic aciduria type 2|not provided
★★☆☆2023→ Residue 240
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)Pathogenic
3-Methylglutaconic aciduria type 2|TAFAZZIN-related disorder
★★☆☆2023→ Residue 79
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)Pathogenic
not provided|3-Methylglutaconic aciduria type 2
★★☆☆2023→ Residue 194
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)Pathogenic
3-Methylglutaconic aciduria type 2
★★☆☆2023→ Residue 80
NM_000116.5(TAFAZZIN):c.109+5G>APathogenic
3-Methylglutaconic aciduria type 2
★★☆☆2023
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)Pathogenic
3-Methylglutaconic aciduria type 2
★★☆☆2022→ Residue 173
View on ClinVar ↗
Related Genes
CRLS1Protein interaction97%DNAJC19Protein interaction88%AUHProtein interaction87%DTNAProtein interaction75%MICOS10Shared pathway50%APOOLShared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
82%
Ovary
75%
Liver
62%
Heart
62%
Brain
18%
Gene Interaction Network
Click a node to explore
TAFAZZINCRLS1DNAJC19AUHDTNAMICOS10APOOL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q16635
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.43Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.12–0.43]
RankingsWhere TAFAZZIN stands among ~20K protein-coding genes
  • #3,471of 20,598
    Most Researched134 · top quartile
  • #750of 5,498
    Most Pathogenic Variants103 · top quartile
  • #2,342of 17,882
    Most Constrained (LOEUF)0.43 · top quartile
Genes detectedTAFAZZIN
Sources retrieved0 papers
Response time—