Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

• Published in: Open biology Vol. 5; no. 6; p. 150047
• Main Authors: Handley, Mark T., Carpanini, Sarah M., Mali, Girish R., Sidjanin, Duska J., Aligianis, Irene A., Jackson, Ian J., FitzPatrick, David R.
• Format: Journal Article
• Language: English
• Published: England The Royal Society 01.06.2015
• Subjects: Abnormalities, Multiple - etiology; Abnormalities, Multiple - metabolism; Abnormalities, Multiple - pathology; Animals; Blotting, Western; Case-Control Studies; Cataract - congenital; Cataract - etiology; Cataract - metabolism; Cataract - pathology; Cells, Cultured; Cornea - abnormalities; Cornea - metabolism; Cornea - pathology; Cytosol - metabolism; Endoplasmic Reticulum - metabolism; Fibroblasts - metabolism; Fibroblasts - pathology; Flow Cytometry; Fluorescent Antibody Technique; Gap; Gef; Gene Expression Regulation; Guanosine Triphosphate - metabolism; HeLa Cells; Humans; Hydrolysis; Hypogonadism - etiology; Hypogonadism - metabolism; Hypogonadism - pathology; Intellectual Disability - etiology; Intellectual Disability - metabolism; Intellectual Disability - pathology; Mice; Mice, Knockout; Microcephaly - etiology; Microcephaly - metabolism; Microcephaly - pathology; Optic Atrophy - etiology; Optic Atrophy - metabolism; Optic Atrophy - pathology; Rab; rab GTP-Binding Proteins - genetics; rab GTP-Binding Proteins - metabolism; rab1 GTP-Binding Proteins - genetics; rab1 GTP-Binding Proteins - metabolism; Rab18; rab3 GTP-Binding Proteins - genetics; rab3 GTP-Binding Proteins - metabolism; Ras; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger - genetics; RAB18; GEF; Rab; Ras; GAP

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...