Gorab gene

GORAB is the acronym for "Golgin RAB6-interacting" and refers to a gene encoding a protein of the same name, a member of the Golgin family, a group of coiled-coil proteins located in the Golgi apparatus. It interacts with small guanosine triphosphatases (RAB6) and plays an important role in mitosis. GORAB is ubiquitously expressed in mammalian tissues, including the skin. However, its biological function in the skin is unknown. In mice, a disruption in the expression of the Gorab gene in mice leads to defects in the morphogenesis of hair follicles, which is characterized by a differentiation disorder of follicular keratinocytes (Liu Y et al. 2016).

GORAB is a protein-coding gene. Mutations in the GORAB gene are the cause of Geroderma osteodysplastica (loss-of-function mutation in GORAB), an autosomal recessive connective tissue disease from the cutis laxa family (Egerer J et al. 2015), and hypercementosis, a dental disease in which excessive cement formation occurs, resulting in a thickening of the root cement of the tooth root.

1. Egerer J et al (2015) GORAB Missense Mutation Disrupt RAB6 and ARF5 Binding and Golgi Targeting.J Invest Dermatol 135:2368-2376.
2. Liu Y et al. (2016) Gorab Is Required for Dermal Condensate Cells to Respond to Hedgehog Signals during Hair Follicle Morphogenesis. J Invest Dermatol 136:378-386.