Rabbit Anti-Tafazzin/FITC Conjugated antibody

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Barth syndrome; Cardiomyopathy dilated 3A (X linked); EFE2; Endocardial fibroelastosis 2; Protein G4.5; Tafazzin; TAZ; TAZ protein; TAZ protein; TAZ_HUMAN.

Cat:

SL15504R-FITC

Species Reactivity：

(predicted: Human,Mouse,Rat,Dog,Cow,Sheep,)

Immunogen：

KLH conjugated synthetic peptide derived from human Tafazzin

Format：

Lyophilized or Liquid

Storage instructions：

Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant

Buffer：

0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

Calculated MW：

33kDa

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Unit:

Price: $596.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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background:
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.

Database links:

Entrez Gene: 6901 Human

Entrez Gene: 66826 Mouse

Omim: 300394 Human

SwissProt: Q16635 Human

Unigene: 409911 Human

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

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