Gene: PARN

Alternate names for this Gene: DAN|DKCB6|PFBMFT4

Gene Summary: The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.12

Description of this Gene: poly(A)-specific ribonuclease

Type of Gene: protein-coding

rs201765587 in PARN gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 PMID 31448843 2019 From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants.

PMID 25893599 2015 Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.

rs182059586 in PARN gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs777090017 in PARN gene and PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 PMID 25848748 2015 Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

rs112210983 in PARN gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.