TAFAZZIN

Chr XXLR

tafazzin, phospholipid-lysophospholipid transacylase

Also known as: BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, TAZ, Taz1

NCBI Gene: 6901 ENSG00000102125 UniProt: Q16635 OMIM: 300394

This acyltransferase remodels cardiolipin in the mitochondrial inner membrane, which is essential for proper mitochondrial function and respiratory chain complex assembly. Mutations cause Barth syndrome, an X-linked recessive disorder characterized by cardiomyopathy, skeletal myopathy, neutropenia, and growth delay that typically presents in infancy or early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.485), reflecting its critical role in mitochondrial metabolism.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Barth syndromeMIM #302060

XLR

Clinical highlights

Gene-disease validity (ClinGen)

Barth syndrome · XLDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TAFAZZIN