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TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase

Gene ID: 6901, updated on 25-Jan-2022
Gene type: protein coding
Also known as: EFE; TAZ; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX

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]

Genomic context

Location:
Xq28
Sequence:
Chromosome: X; NC_000023.11 (154411539..154421726)
Total number of exons:
11

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