Pyridine nucleotide-disulphide oxidoreductase domain 1

PYROXD1
Identifiers
Aliases	PYROXD1, pyridine nucleotide-disulphide oxidoreductase domain 1, MFM8
External IDs	OMIM: 617220; MGI: 2676395; HomoloGene: 11758; GeneCards: PYROXD1; OMA:PYROXD1 - orthologs
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 buccal mucosa cell mucosa of sigmoid colon jejunal mucosa kidney tubule Epithelium of choroid plexus endothelial cell Achilles tendon biceps brachii bronchial epithelial cell body of pancreas Top expressed in tail of embryo genital tubercle proximal tubule spermatid right kidney duodenum jejunum muscle of thigh Paneth cell spermatocyte 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]

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].

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by expanding it.

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