Rabbit polyclonal to KBTBD13
Synthetic peptide conjugated to KLH, corresponding to a region within C terminal amino acids 416-446 of Human KBTBD13 (NP_001094832.1).
Shipped at 4°C. Store at 4°C (up to 6 months). Store at -20°C long term.
Preservative: 0.09% Sodium azide
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Immunogen affinity purified
ab110507 is purified through a protein A column, followed by peptide affinity purification.
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in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/100 - 1/500. Predicted molecular weight: 49 kDa.
Expressed in skeletal muscle.
Defects in KBTBD13 are the cause of nemaline myopathy type 6 (NEM6) [MIM:609273]. A form of nemaline myopathy characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over.
Contains 1 BTB (POZ) domain.
Contains 5 Kelch repeats.
Information by UniProt
has not yet been referenced specifically in any publications.
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