PYROXD1
Identifiers
Aliases	PYROXD1, pyridine nucleotide-disulphide oxidoreductase domain 1, MFM8
External IDs	OMIM: 617220 MGI: 2676395 HomoloGene: 11758 GeneCards: PYROXD1
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p12.1 Start 21,437,615 bp[1] End 21,471,250 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 G2 Start 142,291,380 bp[2] End 142,308,983 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa kidney tubule endothelial cell Achilles tendon biceps brachii bronchial epithelial cell body of pancreas monocyte glomerulus rectum Top expressed in proximal tubule spermatid duodenum jejunum Paneth cell spermatocyte intestinal villus large intestine epithelium of stomach colon More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding oxidoreductase activity Cellular component nucleus cytoplasm sarcomere Biological process cellular response to oxidative stress Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79912 232491 Ensembl ENSG00000121350 ENSMUSG00000041671 UniProt Q8WU10 Q3TMV7 RefSeq (mRNA) NM_024854 NM_001350912 NM_001350913 NM_183165 RefSeq (protein) NP_079130 NP_001337841 NP_001337842 NP_898988 Location (UCSC) Chr 12: 21.44 – 21.47 Mb Chr 6: 142.29 – 142.31 Mb PubMed search [3] [4]
Wikidata
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Pyridine nucleotide-disulphide oxidoreductase domain 1 is a protein that in humans is encoded by the PYROXD1 gene. ^[5]

Function

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].

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.