Description
Product Characteristics:
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.
Subcellular location: Cytoplasm
Synonyms: GO, NTKLBP1, SCYL1BP1, RAB6-interacting golgin, N-terminal kinase-like-binding protein 1, NTKL-BP1, NTKL-binding protein 1, hNTKL-BP1, SCY1-like 1-binding protein 1, SCYL1-BP1, SCYL1-binding protein 1, GORAB
Target Information: 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. [provided by RefSeq, Mar 2009]