Anti-Tafazzin / TAZ Antibody (CAB12716)
- SKU:
- CAB12716
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Signal Transduction
Description
Anti-Tafazzin / TAZ Antibody (CAB12716)
The Tafazzin (TAZ) Polyclonal Antibody (CAB12716) is a powerful tool for researchers studying the Tafazzin protein, which is involved in the regulation of cardiolipin biosynthesis and mitochondrial function. This antibody, developed in rabbits, demonstrates high reactivity with human samples and is suitable for use in Western blot applications.Tafazzin, a protein localized in the inner mitochondrial membrane, plays a crucial role in maintaining mitochondrial structure and function. Mutations in the Tafazzin gene have been linked to various disorders, including Barth syndrome, a rare genetic condition characterized by cardiomyopathy and skeletal myopathy.
Research on Tafazzin is vital for understanding the molecular mechanisms underlying these diseases and developing potential therapeutic interventions.By detecting and analyzing the Tafazzin protein in different cell types, the TAZ Polyclonal Antibody enables researchers to investigate its function and potential implications in mitochondrial disorders and related conditions. This antibody is a valuable tool for advancing research in the fields of molecular biology, genetics, and mitochondrial biology.
| Antibody Name: | Anti-Tafazzin / TAZ Antibody |
| Antibody SKU: | CAB12716 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 174-248 of human Tafazzin / TAZ (NP_851830.1). |
| Application: | WB |
| Recommended Dilution: | WB 1:1000 - 1:2000 |
| Reactivity: | Human |
| Positive Samples: |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 174-248 of human Tafazzin / TAZ (NP_851830.1). |
| Purification Method: | Affinity purification |
| Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
| Isotype: | IgG |
| Sequence: | NDVL PNSP PYFP RFGQ KITV LIGK PFSA LPVL ERLR AENK SAVE MRKA LTDF IQEE FQHL KTQA EQLH NHLQ PGR |
| Gene ID: | 6901 |
| Uniprot: | Q16635 |
| Cellular Location: | Cytoplasm, Membrane, Single-pass membrane protein, Single-pass membrane protein |
| Calculated MW: | 25kDa/27kDa/28kDa/29kDa/30kDa/31kDa/33kDa |
| Observed MW: | Refer to figures |
| Synonyms: | TAZ, BTHS, CMD3A, EFE, EFE2, G4.5, LVNCX, Taz1, tafazzin |
| 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. |
| UniProt Protein Function: | tafazzin: Some isoforms may be involved in cardiolipin (CL) metabolism. Defects in TAZ are the cause of Barth syndrome (BTHS). 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. Belongs to the taffazin family. 9 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Transferase; Mitochondrial; Membrane protein, integral Chromosomal Location of Human Ortholog: Xq28 Cellular Component: mitochondrion; mitochondrial membrane; mitochondrial inner membrane; integral to membrane; intrinsic to membrane; cytosol; nucleus Molecular Function:1-acylglycerophosphocholine O-acyltransferase activity Biological Process: cardiolipin biosynthetic process; cardiac muscle development; mitochondrial respiratory chain complex I assembly; skeletal muscle development; muscle contraction; cristae formation; phospholipid metabolic process; heart development; glycerophospholipid biosynthetic process; hemopoiesis; cardiac muscle contraction; organelle ATP synthesis coupled electron transport Disease: Barth Syndrome |
| NCBI 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, Jul 2008] |
| UniProt Code: | Q16635 |
| NCBI GenInfo Identifier: | 2498992 |
| NCBI Gene ID: | 6901 |
| NCBI Accession: | Q16635.1 |
| UniProt Secondary Accession: | Q16635,Q5HY43, Q5HY44, Q5HY45, Q5HY48, Q86XQ6, Q86XQ7 Q86XQ8, Q86XQ9, Q86XR0, A3KQT2, D3DWX2, |
| UniProt Related Accession: | Q16635 |
| Molecular Weight: | 25,836 Da |
| NCBI Full Name: | Tafazzin |
| NCBI Synonym Full Names: | tafazzin |
| NCBI Official Symbol: | TAZÂ Â |
| NCBI Official Synonym Symbols: | EFE; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCXÂ Â |
| NCBI Protein Information: | tafazzin; protein G4.5 |
| UniProt Protein Name: | Tafazzin |
| UniProt Synonym Protein Names: | Protein G4.5 |
| Protein Family: | Tafazzin |
| UniProt Gene Name: | TAZÂ Â |
| UniProt Entry Name: | TAZ_HUMAN |
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