Anti-TRMT1 Antibody Picoband® Fluoro550 Conjugated

This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID) . Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome.

1. Blaesius, K., Abbasi, A. A., Tahir, T. H., Tietze, A., Picker-Minh, S., Ali, G., Farooq, S., Hu, H., Latif, Z., Khan, M. N., Kaindl, A. Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability. Am. J. Med. Genet. 176A: 2517-2521, 2018. 2. Davarniya, B., Hu, H., Kahrizi, K., Musante, L., Fattahi, Z., Hosseini, M., Maqsoud, F., Farajollahi, R., Wienker, T. F., Ropers, H. H., Najmabadi, H. The role of a novel TRMT1 gene mutation and rare GRM1 gene defect in intellectual disability in two Azeri families. PLoS One 10: e0129631, 2015. Note: Electronic Article. 3. Liu, J., Straby, K. B. The human tRNA (m (2) (2) G (26) ) dimethyltransferase: functional expression and characterization of a cloned hTRM1 gene. Nucleic Acids Res. 28: 3445-3451, 2000.