Gene
TAFAZZIN
tafazzin, phospholipid-lysophospholipid transacylase
- HGNC 11577(opens in a new tab)
- Ensembl gene ENSG00000102125(opens in a new tab)
- NCBI Gene 6901(opens in a new tab)
Summary
- Cytogenetic location
- Xq28
- Coordinates
- Chromosome X: 154,411,539–154,421,726 (GRCh38)
- Exons
- 11 exons across 10.2 kb
- Protein
- 292 amino acids
- Also known as
- BTHS, G4.5, TAZ1
- Previous symbols
- CMD3A, EFE2, EFE, TAZ
- MANE Select transcript
- ENST00000601016.6NM_000116.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Dilated Cardiomyopathy
Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.
How TAFAZZIN is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 10.2 kb; 879 of those bases code for the protein.
How a genome test reads TAFAZZIN
69
positions in TAFAZZIN where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 10.2 kb of TAFAZZIN, introns included, not only the 1.9 kb of exons.
Traits linked to TAFAZZIN
The Human Phenotype Ontology lists these as features of the rare conditions TAFAZZIN can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Enlarged and thickened heart muscle
- Increased left ventricular end-diastolic volume
- Stretched and thinned heart muscle
- Tricuspid regurgitation
- Left ventricular systolic dysfunction
- Abnormal heart rate
- Cardiac failure
- Endocardial fibroelastosis
Show 1 more trait
Abnormality of the musculoskeletal system
- Skeletal myopathy
- Delayed bone maturation
- Low muscle tone
- Muscle weakness
- EMG abnormality
- Gowers sign
- Loss of fat tissue in localized area
- Muscle tissue disease
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TAFAZZIN gene: tafazzin, phospholipid-lysophospholipid transacylase. Retrieved 16 October 2026, from https://dantelabs.com/genes/tafazzin
Dante Labs. TAFAZZIN gene: tafazzin, phospholipid-lysophospholipid transacylase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tafazzin
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