The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1.25 µg/ml. Predicted molecular weight: 56 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Use a concentration of 4 - 8 µg/ml.
機能Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.
組織特異性Detected in adult brain cortex and fetal frontal lobe (at protein level). Highly expressed in brain cortex, putamen, amygdala, hippocampus and cerebellum.
関連疾患Defects in KIAA0319 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:600202]; also known as specific reading disability type 2. Dyslexia is a relatively common, complex cognitive disorder that affects 5% to 10% of school-aged children. The disorder is characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities and in the absence of sensory or neurological disability. Note=A lower expression is associated with the risk haplotype.
発生段階Expressed in the developing cerebral neocortex and glanglionic eminence in 57 days post-fertilization fetal brain.
翻訳後修飾N-glycosylated. O-glycosylated. Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus.
細胞内局在Cell membrane. Early endosome membrane. Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted.