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Gene : PNPT1 Homo sapiens

Name  ? polyribonucleotide nucleotidyltransferase 1 Cytological Location  2p16.1
Brief Description  polyribonucleotide nucleotidyltransferase 1
description  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]
  • synonyms:
  • OTTHUMG00000129335,
  • uc002rzf.4,
  • old-35,
  • HGNC:23166,
  • PNPT1,
  • COXPD13,
  • DFNB70,
  • BC053660,
  • PNPASE,
  • deafness, autosomal recessive 70,
  • PNPase,
  • OLD35,
  • NM_033109,
  • 3'-5' RNA exonuclease,
  • OLD35,
  • polynucleotide phosphorylase,
  • old-35,
  • DFNB70
  • identifiers:
  • 87178,
  • ENSG00000138035,
  • PNPT1

Genome feature

Region: gene ? Length: 59848  
Location: 2:55634063-55693910 reverse strand Cyto location: 2p16.1


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Disease

2 Diseases

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750 SN Ps

5 Cross References

18 Data Sets

4 Homologues

0 Located Features

90 Rna Seq Results