SCYL1BP1 Rabbit Polyclonal Antibody

Golgin, RAB6 interacting (GORAB) Homo sapiens 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], caution:It is uncertain whether Met-1 or Met-26 is the initiator., disease: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., similarity:Belongs to the GORAB family., subunit:Interacts with SCYL1 (By similarity) . Interacts with RCHY1 and RAB6A/RAB6.

GORAB; 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