Tafazzin rabbit pAb

Ref. EK-ES7346

Informations sur le produit

• Nom: Tafazzin rabbit pAb
• Synonymes: TAZ; EFE2; G4.5; Tafazzin; Protein G4.5

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],

• Marque: ELK Biotechnology