Human GORAB ELISA Kit (HUFI07859)

The GORAB gene encodes the golgin, RAB6-interacting protein (also called SCYL1BP1), a Golgi-localized scaffold that supports vesicular trafficking and post-translational protein processing in dermal fibroblasts and osteoblasts. Loss-of-function mutations in GORAB cause geroderma osteodysplasticum (GO; OMIM 231070), an autosomal recessive connective tissue disorder marked by premature skin aging, reduced bone mineral density, joint hypermobility, and short stature. Investigators studying extracellular matrix remodeling, bone metabolism, and progeroid syndromes use this microplate-based quantitative immunoassay to measure circulating GORAB protein in human biofluid specimens. Each Assay Genie kit provides the necessary reagents, standards, and a pre-coated plate in a 96 Assays format, and is intended for research use only in laboratory studies of Golgi biology and age-related connective tissue phenotypes.