Products

Western Blot (Recombinant protein)

ELISA

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

TAZ

Gene Alias

BTHS, CMD3A, EFE, EFE2, FLJ27390, G4.5, LVNCX, Taz1, XAP-2

Gene Description

tafazzin

Omim ID

Gene Ontology

Gene 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

Other Designations

OTTHUMP00000031946|OTTHUMP00000031947|OTTHUMP00000031948|OTTHUMP00000031949|OTTHUMP00000061673