Anti-PTRHD1 Antibody Picoband® Fluoro647 Conjugated

This gene encodes the enzyme peptidyl-tRNA hydrolase. Peptidyl-tRNA hydrolases perform the essential function of recycling peptidyl-tRNAs. Mutations in this gene are associated with autosomal-recessive intellectual disability and parkinsonism.

E.coli-derived human C2orf79/PTRHD1 recombinant protein (Position: M1-K140) . Human C2orf79/PTRHD1 shares 89.3% amino acid (aa) sequence identity with mouse C2orf79/PTRHD1.

1. Al-Kasbi, G., Al-Saegh, A., Al-Qassabi, A., Al-Jabry, T., Zadjali, F., Al-Yahyaee, S., Al-Maawali, A. Biallelic PTRHD1 frameshift variants associated with intellectual disability, spasticity, and parkinsonism. Mov. Disord. Clin. Pract. 8: 1253-1257, 2021. 2. Cheraghi, S., Moghbelinejad, S., Najmabadi, H., Kahrizi, K., Najafipour, R. The PTRHD1 mutation in intellectual disability. Arch. Iran. Med. 24: 747-751, 2021. 3. Elahi, E. PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability. Mov. Disord. 33: 174, 2018.