The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Predicted molecular weight: 58 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Isoform 1 and isoform 2 are expressed in skeletal muscle, brain, lung and placenta. Isoform 2 is also expressed in heart, diaphragm and stomach.
Involvement in disease
Defects in SEPN1 are the cause of myopathy SEPN1-related (M-SEPN1) [MIM:602771]. A group of neuromuscular disorders consisting of four nosological entities: classic multiminicore disease (MmD), rigid spine muscular dystrophy 1 syndrome (RSMD1), desmin-related myopathy with Mallory body-like inclusions (MB-DRM) and congenital fiber-type disproportion. All are clinically characterized by poor axial muscle strength, scoliosis and neck weakness, and a variable degree of spinal rigidity. Early ventilatory insufficiency can lead to death by respiratory failure.
Contains 1 EF-hand domain.
The N-terminus (first 61 amino acids) contains an endoplasmic reticulum addressing and retention targeting signal.