Gene: PNPT1

Alternate names for this Gene: COXPD13|DFNB70|OLD35|PNPASE|old-35

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.1

Description of this Gene: polyribonucleotide nucleotidyltransferase 1

Type of Gene: protein-coding

rs146571352 in PNPT1 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 27759031 2016 Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

PMID 23084291 2012 Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.

rs397514599 in PNPT1 gene and DEAFNESS, AUTOSOMAL RECESSIVE 70 PMID 23084290 2012 A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

rs6739788 in PNPT1 gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.