MyBioSource.com's Anti-PNPT1 Antibody, Rabbit Polyclonal is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunocytochemistry, and Immunofluorescence.
Description
PNPT1 encodes the polynucleotide phosphorylase (PNPase) protein, which is involved in multiple RNA processing functions in the mitochondria. Bi-allelic pathogenic PNPT1 variants cause heterogeneous clinical phenotypes affecting multiple organs without any established genotype-phenotype correlations. Defects in PNPase can cause variable combined respiratory chain complex defects. PNPT1 mutations have been reported in patients with neurodevelopmental diseases with mitochondrial dysfunction. PNPT1 is a mitochondrial RNA transport protein that has been linked to two discrete phenotypes, namely isolated sensorineural hearing loss and combined oxidative phosphorylation deficiency. The latter has been described in multiple families presenting with complex neurologic manifestations in childhood