Gene Gene information from NCBI Gene database.
Entrez ID 79912
Gene name Pyridine nucleotide-disulphide oxidoreductase domain 1
Gene symbol PYROXD1
Synonyms (NCBI Gene)
MFM8
Chromosome 12
Chromosome location 12p12.1
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 pyri
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs369083786 G>A Pathogenic Splice donor variant, genic upstream transcript variant
rs755208949 G>C Pathogenic Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs781565158 A>G Pathogenic Genic upstream transcript variant, intron variant, non coding transcript variant, missense variant, coding sequence variant
rs1057518754 G>A Pathogenic Splice donor variant, genic upstream transcript variant
rs1057518755 ->CAAA Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
269
miRTarBase ID miRNA Experiments Reference
MIRT271390 hsa-miR-590-3p HITS-CLIP 19536157
MIRT185151 hsa-miR-6733-3p HITS-CLIP 19536157
MIRT185145 hsa-miR-4302 HITS-CLIP 19536157
MIRT724808 hsa-miR-4775 HITS-CLIP 19536157
MIRT185146 hsa-miR-4276 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 31515488, 32296183
GO:0005634 Component Nucleus IDA 27745833
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0016174 Function NAD(P)H oxidase H2O2-forming activity IDA 33930333
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617220 26162 ENSG00000121350
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WU10
Protein name Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 (EC 1.8.1.-)
Protein function Probable FAD-dependent oxidoreductase; involved in the cellular oxidative stress response (PubMed:27745833). Required for normal sarcomere structure and muscle fiber integrity (By similarity). {ECO:0000250|UniProtKB:Q6PBT5, ECO:0000269|PubMed:27
PDB 6ZK7 , 8ORJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07992 Pyr_redox_2 11 383 Pyridine nucleotide-disulphide oxidoreductase Domain
PF18267 Rubredoxin_C 409 479 Rubredoxin NAD+ reductase C-terminal domain Domain
Sequence
Sequence length 500
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Myofibrillar myopathy 8 Likely pathogenic; Pathogenic rs757103085, rs752009313, rs765752811, rs369083786, rs755208949, rs781565158, rs1057518754, rs1057518755 RCV002568512
RCV003222492
RCV003222493
RCV000412640
RCV000412488
RCV000412572
RCV000412626
RCV000412529
Thyroid cancer, nonmedullary, 1 Likely pathogenic rs2540248611 RCV005926783
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs11046062, rs185019468 RCV005920358
RCV005907293
Clear cell carcinoma of kidney Uncertain significance rs151265631 RCV005925686
Familial cancer of breast Benign; Likely benign rs11046063, rs185019468 RCV005921702
RCV005907291
Hepatocellular carcinoma Benign; Uncertain significance rs3213210, rs2192182, rs151265631 RCV005915143
RCV005915768
RCV005925685
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Connective Tissue Diseases Associate 36920481
Contracture Associate 39973409
Heart Diseases Associate 36920481
Lung Diseases Associate 30515627
Muscle Hypotonia Associate 36920481
Muscle Weakness Associate 36920481
Muscular Diseases Associate 30515627, 31455395, 32037607, 36920481, 39973409
Muscular Dystrophies Limb Girdle Associate 30515627, 31455395
Myofibrillar Myopathy Associate 30515627
Myotonia Congenita Associate 31455395, 39973409