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Protein structure
TAZ
TafazzinBTHS, CMD3A, EFE, EFE2, G4.5, TAZ1, XAP-2
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]
Top validated antibodies |
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| Novus Biologicals |  H00006901-M12 |
5 references | Monoclonal |
WB
EL
ICC
IHC
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| Invitrogen Antibodies | 703032 |
1 references | Monoclonal |
WB
ICC
OA
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| antibodies-online | ABIN2842495 |
1 references | Polyclonal |
WB
IHC
FC
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| Abnova Corporation | H00006901-M12 |
3 references | Monoclonal |
WB
EL
|
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| Aviva Systems Biology | OAAB05400 |
1 references | Polyclonal |
WB
EL
IHC
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