The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 0.25 µg/ml. Predicted molecular weight: 55 kDa. Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
機能Putative membrane receptor.
組織特異性Widely expressed with strongest expression in heart and pancreas.
関連疾患Defects in LMBR1 are associated with preaxial polydactyly type 2 (PPD2) [MIM:174500]; also known as polydactyly of triphalangeal thumb. Polydactyly consists of duplication of the distal phalanx. The thumb in PPD2 is usually opposable and possesses a normal metacarpal. The mutations do not change the normal expression of LMBR1, but alter the expression of SHH by disrupting a long-range, cis-regulatory element of that gene. Defects in LMBR1 are the cause of acheiropody (ACHP) [MIM:200500]. Acheiropody is a very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of all the bones of the hands and feet. This syndrome of autosomal recessive inheritance has only been observed in Brazil so far. Defects in LMBR1 are a cause of syndactyly type 4 (SDYT4) [MIM:186200]. SDYT4 is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5). A frequent association with polydactyly (with six metacarpals and six digits) has been reported. Feet are affected occasionally. The condition is inherited as an autosomal dominant trait.