GORAB

This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described.

Golgin, RAB6 Interacting

Hair follicle morphogenesis Source: Ensembl
Non-motile cilium assembly Source: GO_Central
Positive regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning Source: Ensembl

Cytoplasm; Golgi apparatus

Geroderma osteodysplasticum (GO):
A rare autosomal recessive disorder characterized by lax, wrinkled skin, joint laxity and a typical face with a prematurely aged appearance. Skeletal signs include severe osteoporosis leading to frequent fractures, malar and mandibular hypoplasia and a variable degree of growth retardation.