Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation
RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary ‘RAB3GAP’ complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-a...
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| Hauptverfasser: | , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
The Royal Society
2015-01-01
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| Schriftenreihe: | Open Biology |
| Schlagworte: | |
| Online-Zugang: | https://royalsocietypublishing.org/doi/pdf/10.1098/rsob.150047 |
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