The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent concentration.
Titre using peptide based assay: 1/312500.
Use a concentration of 1 µg/ml. Detects a band of approximately 41 kDa (predicted molecular weight: 36 kDa). Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus.
Involvement in disease
Defects in FTSJ1 are the cause of mental retardation X-linked type 44 (MRX44) [MIM:309549]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Belongs to the methyltransferase superfamily. RlmE family.