Signal Transduction Antibodies 1
Anti-Tafazzin / TAZ Antibody (CAB12722)
- SKU:
- CAB12722
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Signal Transduction
Description
Antibody Name: | Anti-Tafazzin / TAZ Antibody |
Antibody SKU: | CAB12722 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human, Mouse, Rat |
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, Mouse, Rat |
Positive Samples: | H460, Mouse heart, Rat heart |
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: | 50kDa |
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: | TAZ |
NCBI Official Synonym Symbols: | EFE; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX |
NCBI Protein Information: | tafazzin; protein G4.5 |
UniProt Protein Name: | Tafazzin |
UniProt Synonym Protein Names: | Protein G4.5 |
Protein Family: | Tafazzin |
UniProt Gene Name: | TAZ |
UniProt Entry Name: | TAZ_HUMAN |
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