The SCYL1BP1 Polyclonal Antibody, Cy5.5 Conjugated from Bioss Inc. is a Rabbit Polyclonal antibody to GORAB. This antibody recognizes Human antigen. The SCYL1BP1 Polyclonal Antibody, Cy5.5 Conjugated has been validated for the following applications: Immunocytochemistry, Immunofluorescence, Immunohistochemistry, Immunohistochemistry - fixed, and Immunohistochemistry - frozen.
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