TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase
Gene ID: 6901, updated on 2-Nov-2024Gene type: protein coding
Also known as: EFE; TAZ; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX
- See all available tests in GTR for this gene
- Go to complete Gene record for TAFAZZIN
- Go to Variation Viewer for TAFAZZIN variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| 3-Methylglutaconic aciduria type 2 | See labs |
| Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview | See labs |
Genomic context
- Location:
- Xq28
- Sequence:
- Chromosome: X; NC_000023.11 (154411539..154421726)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TAFAZZIN variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Human Tafazzin Gene Variants Database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TAZ database
- TAZbase: Mutation registry for Barth syndrome
- Variation ViewerRelated Variants
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