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- Table of Contents
1 Citations 5 Q&As
Facts about Tafazzin.
Human | |
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Gene Name: | TAZ |
Uniprot: | Q16635 |
Entrez: | 6901 |
Belongs to: |
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taffazin family |
BTHSEFE; cardiomyopathy, dilated 3A (X-linked); CMD3A; EFE2FLJ27390; G4.5endocardial fibroelastosis 2; LVNCX; Protein G4.5; tafazzin; Taz1; XAP-2
Mass (kDA):
33.459 kDA
Human | |
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Location: | Xq28 |
Sequence: | X; NC_000023.11 (154411539..154421726) |
High levels in cardiac and skeletal muscle. Up to 10 isoforms can be present in different amounts in different tissues. Most isoforms are ubiquitous. Isoforms that lack the N- terminus are found in leukocytes and fibroblasts, but not in heart and skeletal muscle. Some forms appear restricted to cardiac and skeletal muscle or to leukocytes.
[Isoform 1]: Membrane; Single-pass membrane protein.; [Isoform 2]: Cytoplasm.; [Isoform 3]: Membrane; Single-pass membrane protein.; [Isoform 4]: Membrane; Single-pass membrane protein.; [Isoform 5]: Membrane; Single-pass membrane protein.; [Isoform 6]: Cytoplasm.; [Isoform 7]: Membrane; Single-pass membrane protein.; [Isoform 8]: Cytoplasm.; [Isoform 9]: Cytoplasm.
PMID: 8630491 by Bione S., et al. A novel X-linked gene, G4.5. is responsible for Barth syndrome.
PMID: 12930833 by Vaz F.M., et al. Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.
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