PYROXD1, pyridine nucleotide-disulphide oxidoreductase domain 1

PYROXD1, pyridine nucleotide-disulphide oxidoreductase domain 1

• 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]

• Gene Synonyms (pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1, MFM8,)
• NCBI Gene ID: 79912
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q8WU10
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

pyridine nucleotide-disulphide oxidoreductase domain 1 interacts with:

• uracil phosphoribosyltransferase homolog

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