TAZ Antibody (PACO05175)
- SKU:
- PACO05175
- Product type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Application:
- ELISA
- Application:
- WB
- Antibody type:
- Polyclonal
- Conjugation:
- Unconjugated
Frequently bought together:
Description
抗体名: | TAZ Antibody (PACO05175) |
抗体コード: | PACO05175 |
サイズ: | 50ug |
宿主種: | Rabbit |
申し込み: | ELISA, WB |
推奨される希釈: | ELISA:1:5000, WB:1:500-1:2000 |
反応性: | Human |
免疫原: | Synthesized peptide derived from the Internal region of human Tafazzin. |
憲法: | Liquid |
ストレージバッファ: | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
精製方法: | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
抗体のクローン性: | Polyclonal |
アイソタイプ: | IgG |
Conjugate: | Non-conjugated |
シノニム: | TAZ; EFE2; G4.5; Tafazzin; Protein G4.5 |
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 |