Table 1.

Human monogenic diseases caused by a Ras-associated binding (Rab) protein or Rab-associated protein defect

Disease	OMIM	Gene	Rab	Rab-associated	Description
Griscelli syndrome type I	214450	MYO5A		x	Autosomal recessive, albinism, neurological impairment
Griscelli syndrome type II	607624	RAB27A	x		Autosomal recessive, albinism, hemophagocytic syndrome, sometimes secondary neurological impairment
Griscelli syndrome type III	609227	MLPH		x	Autosomal recessive, albinism
Choroideremia	303100	REP1		x	X-linked, progressive loss of vision beginning at an early age, and the choroid and retina undergo complete atrophy
Non-specific mental retardation	300104	GDI1		x	X-linked, affected males show moderate to severe mental retardation, carrier females may also be mildly affected
Charcot-Marie-Tooth disease type IIb	608882	RAB7	x		Autosomal dominant, peripheral sensory neuropathy with late onset muscle weakness, foot ulcers and infections
Warburg Micro syndrome	600118	RAB3GAP1		x	Autosomal recessive, microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism
Martsolf syndrome	212720	RAB3GAP2		x	Autosomal recessive, congenital cataracts, hypogonadism, and mild mental retardation