Product Information
Cite ID#EN5507781
TypePolyclonal Antibodies
HostRabbit
Positive controlH460, Mouse heart, Rat heart
IsotypeIgG
SummaryThis 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.
FormLiquid
Storage BufferBuffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.