1/500 - 1/2000. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.
機能Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA.
組織特異性Widely expressed. High levels of expression found in brain and skeletal muscle.
関連疾患Defects in PUS1 are a cause of myopathy with lactic acidosis and sideroblastic anemia type 1 (MLASA1) [MIM:600462]; also known as mitochondrial myopathy and sideroblastic anemia. MLASA is a rare autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow.
配列類似性Belongs to the tRNA pseudouridine synthase TruA family.