Anti-PNPT1 Antibody Picoband® Fluoro594 Conjugated

The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3'-to-5' exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in the mitochondrial intermembrane space and is involved in import of RNA to mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency-13 and autosomal recessive nonsyndromic deafness-70. Related pseudogenes are found on chromosomes 3 and 7.

1. Liu, X., Fu, R., Pan, Y., Meza-Sosa, K. F., Zhang, Z., Lieberman, J. PNPT1 release from mitochondria during apoptosis triggers decay of poly (A) RNAs. Cell 174: 187-201, 2018. 2. Vedrenne, V., Gowher, A., De Lonlay, P., Nitschke, P., Serre, V., Boddaert, N., Altuzarra, C., Mager-Heckel, A.-M., Chretien, F., Entelis, N., Munnich, A., Tarassov, I., Rotig, A. Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency. Am. J. Hum. Genet. 91: 912-918, 2012. 3. von Ameln, S., Wang, G., Boulouiz, R., Rutherford, M. A., Smith, G. M., Li, Y., Pogoda, H.-M., Nurnberg, G., Stiller, B., Volk, A. E., Borck, G., Hong, J. S., and 12 others. A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss. Am. J. Hum. Genet. 91: 919-927, 2012.