| ncRNA Symbol: | PYROXD1 |
| Full Name: | pyridine nucleotide-disulphide oxidoreductase domain 1 |
| Category: | mRNA |
| Synonyms: | MFM8 |
| Chromosome: | chr12 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 21437615 | End Site(bp): | 21471252 |
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| Gene Summary: | 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] |
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