基因名：
GORAB
产品别名：
GO； NTKLBP1； SCYL1BP1； GORAB； golgin, RAB6 interacting； golgin, RAB6 interacting； RAB6-interacting golgin； N-terminal kinase-like-binding protein 1； NTKL-binding protein 1； SCY1-like 1-binding protein 1； SCYL1-binding protein 1； SCYL结合蛋白1；
背景信息：
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.
