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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PNPT1-20-RE | 20 (40 μL) | 200 μL |  |
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| PNPT1-20-OR | 20 (40 μL) | 200 μL |  |
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| PNPT1-20-GO | 20 (40 μL) | 200 μL |  |
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| PNPT1-20-GR | 20 (40 μL) | 200 μL |  |
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| PNPT1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PNPT1
Gene Name : Polyribonucleotide nucleotidyltransferase 1
Chromosome : CHR 2: 556,939,09-556,340,62
Locus : 2p16.1
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