Reactivities: | Human |
Presku: | AAP63399 |
Size: | 100ug |
Weight: | 28kDa |
Gene: | 6901 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | BTHS; CMD3A; EFE; EFE2; FLJ27390; G4.5; LVNCX; Taz1; XAP-2 |