RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

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. Abbreviations: ER, endoplasmic reticulum; GAP, GTPase-activating protein; Gdi1/GDI1, GDP dissociation inhibitor 1; NMJ, neuromuscular junction; V-ATPase, vacuolar H+-ATPase