PYROXD1, Official Symbol PYROXD1provided by HGNC Official Full Name pyridine nucleotide-disulphide oxidoreductase domain 1provided by HGNC Primary source HGNC:HGNC:26162 See related Ensembl:ENSG00000121350 MIM:617220; AllianceGenome:HGNC:26162 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MFM8 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] Expression Ubiquitous expression in thyroid (RPKM 12.4), lymph node (RPKM 11.0) and 25 other tissues See more Orthologs mouse all