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Product Name SCYL1BP1 Chinese Name SCYLBinding protein1抗体 Alias hNTKL BP1; N terminal kinase like binding protein 1; NTKL binding protein 1; NTKL BP1; NTKLBP 1; NTKLBP1; SCY1 like 1 binding protein 1; SCYL1 binding protein 1; SCYL1 BP1; GORAB_HUMAN. Research Area Cell biology Signal transduction Immunogen Species Rabbit Clonality Polyclonal React Species Human, (predicted: Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 45kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human SCYL1BP1: 201-300/394 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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.
Subunit:
Interacts with SCYL1 (By similarity). Interacts with RCHY1 and RAB6A/RAB6.
Subcellular Location:
Cytoplasm. Golgi apparatus.
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.
SWISS:
Q5T7V8
Gene ID:
92344
Database links:Entrez Gene: 92344 Human
Entrez Gene: 98376 Mouse
Omim: 607983 Human
SwissProt: Q5T7V8 Human
SwissProt: Q8BRM2 Mouse
Unigene: 183702 Human
Unigene: 32901 Mouse
Unigene: 45710 Rat
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