eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | donnai-barrow syndrome |
| Comorbidity | C0033687|proteinuria |
| Sentences | 1 |
| PubMedID- 24196483 | Several very large proteins were distinguished by visible coomassie bands (figure 3e) in the high mw gelc experiments: iggfc-binding protein (a gigantic protein with 5,405 amino acids with a nonimal unprocessed molecular mass of 572kda were present (38 peptides; band 28), megalin, the heymann nephritis antigen (low-density lipoprotein receptor-related protein 2 mutated in donnai-barrow and faciooculoacousticorenal syndrome, associated with proteinuria) a 522kda protein (most abundant protein slice 8), maltase (slices 8 &13) and ace, α2 macroglobulin & ace2 (in slice 23) and aminopeptidase n (slice 29). |
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