PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 79912 |
| Gene name | Pyridine nucleotide-disulphide oxidoreductase domain 1 |
| Gene symbol | PYROXD1 |
| Synonyms (NCBI Gene) |
MFM8
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| 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 |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Sequence | ||||||||||||||||
| Sequence length | 500 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Associated diseases
Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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