Protein Summary
Some isoforms may be involved in cardiolipin (CL) metabolism. 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]
- ENST00000475699
- ENSP00000419854
- ENSG00000102125
- ENST00000601016
- ENSP00000469981
- ENST00000612460
- ENSP00000481037
- ENST00000613002
- ENSP00000478154
- EFE2
- G4.5
- EFE
- BTHS
- EFE2
- G4.5
- Taz1
- CMD3A
- LVNCX
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
kinase perturbation | 0.84 | ||
virus perturbation | 0.83 | ||
cell type or tissue | 0.78 | ||
cellular component | 0.74 | ||
tissue sample | 0.67 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 431.64 (req: < 5)
Gene RIFs: 48 (req: <= 3)
Antibodies: 386 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 431.64 (req: >= 5)
Gene RIFs: 48 (req: > 3)
Antibodies: 386 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 18
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0