1 protein found in SwissVar (3 variants)
with gene/protein name O00330
Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.
| Accession | Entry name | Disease | Variants | 3D mapping (variant position) |
|---|---|---|---|---|
| O00330 | ODPX_HUMAN | p.Arg23Cys p.Thr101Ala p.Asp370Val |
| |
| O00330 | ODPX_HUMAN | pyruvate dehydrogenase e3-binding protein deficiency |
