Bioss Inc.'s SCYL1BP1 Polyclonal Antibody is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: EIA, Immunoassay, ELISA, Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, Immunohistochemistry - frozen, and Western Blot. The SCYL1BP1 Polyclonal Antibody was generated using GORAB as the antigen and it reacts with Homo Sapiens, and Human.
Description
Defects in GORAB are the cause of geroderma osteodysplasticum (GO) [MIM:231070]; also known as gerodermia osteodysplastica or Walt Disney dwarfism. GO is 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