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Rabbit Anti-Tafazzin antibody
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].
Function:
Some isoforms may be involved in cardiolipin (CL) metabolism.
Subcellular Location:
Isoform 1, 3, 4, 5, 7: Membrane; Single-pass membrane protein.
Isoform 2, 6, 8, 9: Cytoplasm (Probable).
Tissue Specificity:
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.
DISEASE:
Barth syndrome (BTHS) [MIM:302060]: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non-compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the taffazin family.
SWISS:
Q16635
Gene ID:
6901
Database links:
Entrez Gene: 6901 Human
Entrez Gene: 66826 Mouse
Omim: 300394 Human
SwissProt: Q16635 Human
Unigene: 409911 Human
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