Source: | Rabbit | Gene Id: | 92344 |
Isotype: | IgG | Swiss Prot: | Q5T7V8 |
purity: | Purified by Protein A. |
Background: |
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. |
Reactivity | Human, Mouse, Rat |
Tested applications | WB IHC IF |
Clonality | Polyclonal Antibody |
Calculated MW | / |
Recommended Dilutions |
WB 1:100-1:1000
IHC 1:100-1:500
IF 1:50-1:200
|
Immunogen | KLH conjugated synthetic peptide derived from human SCYL1BP1 |
Storage | Aqueous buffered solution containing 100ug/ml BSA, 50% glycerol and 0.09% sodium azide. Store at -20℃ for 12 months |
Synonym | 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 |
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