title: RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
abstract: Micro syndrome (OMIM 60018) and Martsolf syndrome (OMIM 21270) are related rare autosomal recessive disorders characterized by ocular and neurological abnormalities and hypothalamic hypogonadism. Micro syndrome has been associated with causative mutations in three disease genes: RAB3GAP1, RAB3GAP2 and RAB18. Martsolf syndrome has been associated with a mutation in RAB3GAP2. The present review summarizes the current literature on these genes and the proteins they encode.
authors.affiliation: MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, Scotland, UK.
authors.forename: Mark T
authors.initials: MT
authors.lastname: Handley
authors.forename: Irene A
authors.initials: IA
authors.lastname: Aligianis
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D000818:Animals; D002386:Cataract / Q000151:congenital* / Q000201:enzymology / Q000235:genetics; D003315:Cornea / Q000002:abnormalities / Q000201:enzymology; D006801:Humans; D007006:Hypogonadism / Q000201:enzymology / Q000235:genetics*; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics*; D008831:Microcephaly / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D009896:Optic Atrophy / Q000201:enzymology / Q000235:genetics*; D020691:rab GTP-Binding Proteins / Q000235:genetics* / Q000502:physiology; D020692:rab3 GTP-Binding Proteins / Q000235:genetics* / Q000502:physiology
chemical_list: C484168:RAB18 protein, human; C555465:RAB3GAP2 protein, human; C580955:RAB3GAP1 protein, human; D020691:rab GTP-Binding Proteins; D020692:rab3 GTP-Binding Proteins