This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PYROXD1-20-RE | 20 (40 μL) | 200 μL |  |
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| PYROXD1-20-OR | 20 (40 μL) | 200 μL |  |
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| PYROXD1-20-GO | 20 (40 μL) | 200 μL |  |
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| PYROXD1-20-GR | 20 (40 μL) | 200 μL |  |
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| PYROXD1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]
Gene Symbol : PYROXD1
Gene Name : Pyridine nucleotide-disulphide oxidoreductase domain 1
Chromosome : CHR 12: 214,376,03-214,712,49
Locus : 12p12.1
Alt. Genes : LRPPRC
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