null

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
€129 - €359
Frequently bought together:

Description

system_update_altDatasheetsystem_update_altMSDS
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: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

Related Products