Description
Product Characteristics: PNPT1 is a subunit of the exosome complex, which is involved in 3-prime-to-5-prime exoribonuclease activity for RNA processing and degradation (Raijmakers et al., 2002 [PubMed 12419256]).
Target Information: 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. [provided by RefSeq, Dec 2012]