GENE REFERENCE / HGNC:11577

TAFAZZIN

tafazzin, phospholipid-lysophospholipid transacylase

protein-coding geneXq28Gene information

What does this gene do?

The TAFAZZIN gene provides instructions for producing a protein called tafazzin. Several different versions (isoforms) of the tafazzin protein are produced from the TAFAZZIN gene. Most isoforms are found in all tissues, but some are found only in certain types of cells. The tafazzin protein is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. The tafazzin protein adds a fatty acid called linoleic acid to the cardiolipin molecule, which enables cardiolipin to perform its functions. Cardiolipin is necessary for maintaining mitochondrial shape, energy production, and protein transport within cells.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-11-19. Source review: 2014-07.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Barth syndromeMONDO:0010543 · Evaluated 2021-02-12	X-linked	DefinitiveGeneral Inborn Errors of Metabolism Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 903
Submissions for variants in or overlapping this gene: 1,340
Submissions explicitly reporting this gene: 1,053
Alleles reported pathogenic / likely pathogenic: 112
VariationIDs with uncertain significance: 234
VariationIDs with conflicting classifications: 34

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about TAFAZZIN?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 112 alleles in TAFAZZIN reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in TAFAZZIN.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Buy BioDecode See a sample report →Check file compatibility →