The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500 - 1/1000. Detects a band of approximately 50 kDa (predicted molecular weight: 44 kDa).
機能May be important in protein trafficking and/or protein folding and stabilization.
組織特異性Highly expressed in retina. Specifically localized to the developing photoreceptor layer and within the photoreceptors of the adult retina.
関連疾患Defects in AIPL1 are the cause of Leber congenital amaurosis type 4 (LCA4) [MIM:604393]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children.