其他名稱: 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
實(shí)測條帶: 45kD
功能: 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.,
其他名稱: 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
實(shí)測條帶: 45kD
功能: 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.,
相關(guān)產(chǎn)品: RS0001,RS0002,YM3028,YM3029
細(xì)胞定位: Cytoplasm . Golgi apparatus .
組織表達(dá): Embryo,Pancreas,Testis,Trachea,
科研貨號: PLA019049
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