TAZ blocking peptide

TAZ Antibody (N-term) Blocking Peptide

• Gene Names: TAZ; EFE; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX
• Synonyms: TAZ; TAZ Antibody (N-term) Blocking Peptide; Tafazzin; Protein G45; EFE2; G45; TAZ blocking peptide

• Specificity: The synthetic peptide sequence used to generate the antibody was selected from the N-term region of human TAZ. A 10 to 100 fold molar excess to antibody is recommended. Precise conditions should be optimized for a particular assay.
• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 292

• Cellular Location: Isoform 1: Membrane; Single-pass membrane protein Isoform 3: Membrane; Single-pass membrane protein Isoform 5: Membrane; Single-pass membrane protein Isoform 7: Membrane; Single-pass membrane protein Isoform 9: Cytoplasm.
• Tissue Location: 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
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for TAZ blocking peptide

Some isoforms may be involved in cardiolipin (CL) metabolism.

NCBI and Uniprot Product Information

• NCBI GI #: 2498992
• NCBI GeneID: 6901
• UniProt Accession #: Q16635; Q5HY43; Q5HY44; Q5HY45; Q5HY48; Q86XQ6; Q86XQ7; Q86XQ8; Q86XQ9; Q86XR0; A3KQT2; D3DWX2
• Molecular Weight: 25,836 Da
• NCBI Official Full Name: Tafazzin
• NCBI Official Synonym Full Names: tafazzin
• NCBI Official Symbol: TAZ
• NCBI Official Synonym Symbols: EFE; BTHS; EFE2; G4.5; Taz1; CMD3A; LVNCX
• NCBI Protein Information: tafazzin
• UniProt Protein Name: Tafazzin
• Protein Family: Tafazzin
• UniProt Gene Name: TAZ
• UniProt Synonym Gene Names: EFE2; G4.5
• UniProt Entry Name: TAZ_HUMAN

NCBI Description

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 Description

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.

Protein type: Transferase; Membrane protein, integral; Mitochondrial

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: intrinsic to membrane; mitochondrial inner membrane; mitochondrial membrane; mitochondrion

Molecular Function: 1-acylglycerol-3-phosphate O-acyltransferase activity; 1-acylglycerophosphocholine O-acyltransferase activity; O-acyltransferase activity

Biological Process: cardiac muscle contraction; cardiac muscle development; cardiolipin biosynthetic process; cristae formation; heart development; hemopoiesis; mitochondrial respiratory chain complex I assembly; muscle contraction; organelle ATP synthesis coupled electron transport; skeletal muscle development

Disease: Barth Syndrome